Metabolism, Inborn Errors
Categorical breakdown of terms falling inder the category of Metabolism, Inborn Errors. Sub categories will become more specific in nature to the terms listed for Metabolism, Inborn Errors.
Sub-Categories
Terms
Abetalipoproteinemia - An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal trig...
Acatalasia - A rare autosomal recessive disorder resulting from the absence of CATALASE activity. Though usually ...
Acidosis, Renal Tubular - A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolicall...
Adrenal Hyperplasia, Congenital - A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of c...
Adrenoleukodystrophy - An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty ...
Adrenoleukodystrophy - An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty ...
Albinism - General term for a number of inherited defects of amino acid metabolism in which there is a deficien...
Albinism, Ocular - Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted....
Albinism, Oculocutaneous - Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all ...
Alkaptonuria - An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIO...
alpha-Mannosidosis - An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activ...
alpha-Mannosidosis - An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activ...
Amino Acid Metabolism, Inborn Errors - Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present...
Amino Acid Transport Disorders, Inborn - Disorders characterized by defective transport of amino acids across cell membranes. These include d...
Amyloid Neuropathies, Familial - Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in ne...
Amyloidosis, Familial - Diseases in which there is a familial pattern of AMYLOIDOSIS....
Antley-Bixler Syndrome Phenotype - An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANI...
Argininosuccinic Aciduria - Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosucci...
Argininosuccinic Aciduria - Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosucci...
Arthritis, Gouty - Arthritis, especially of the great toe, as a result of gout. Acute gouty arthritis often is precipit...
Aspartylglucosaminuria - A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASP...
Barth Syndrome - Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked ...
beta-Mannosidosis - An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that r...
beta-Mannosidosis - An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that r...
Biotinidase Deficiency - The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-depen...
Biotinidase Deficiency - The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-depen...
Brain Diseases, Metabolic, Inborn - Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead ...
Carbamoyl-Phosphate Synthase I Deficiency Disease - A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle to...
Carbamoyl-Phosphate Synthase I Deficiency Disease - A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle to...
Carbohydrate-Deficient Glycoprotein Syndrome - An inborn error of carbohydrate metabolism manifesting as a genetic multisystem disorder of autosoma...
Cerebral Amyloid Angiopathy, Familial - A familial disorder marked by AMYLOID deposits in the walls of small and medium sized blood vessels ...
Cerebral Amyloid Angiopathy, Familial - A familial disorder marked by AMYLOID deposits in the walls of small and medium sized blood vessels ...
Cholesterol Ester Storage Disease - An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). ...
Cholesterol Ester Storage Disease - An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). ...
Chondrodysplasia Punctata, Rhizomelic - An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen bios...
Citrullinemia - A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an...
Citrullinemia - A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an...
Coproporphyria, Hereditary - An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIV...
Crigler-Najjar Syndrome - A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is ...
Cystinosis - A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membran...
Cystinuria - An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PR...
Dihydropyrimidine Dehydrogenase Deficiency - An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrim...
Fabry Disease - An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. I...
Fabry Disease - An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. I...
Fabry Disease - An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. I...
Fanconi Syndrome - A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without prima...
Farber Lipogranulomatosis - A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous dep...
Farber Lipogranulomatosis - A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous dep...
Farber Lipogranulomatosis - A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous dep...
Fructose Intolerance - An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (...
Fructose Metabolism, Inborn Errors - Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types:...
Fructose-1,6-Diphosphatase Deficiency - An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosph...
Fucosidosis - An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activi...
Fucosidosis - An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activi...
Fucosidosis - An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activi...
Galactosemias - A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This co...
Galactosemias - A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This co...
Gangliosidoses - A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDE...
Gangliosidoses - A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDE...
Gangliosidoses - A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDE...
Gangliosidoses, GM2 - A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) ...
Gangliosidoses, GM2 - A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) ...
Gangliosidoses, GM2 - A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) ...
Gangliosidosis, GM1 - An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACT...
Gangliosidosis, GM1 - An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACT...
Gangliosidosis, GM1 - An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACT...
Gaucher Disease - An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE)...
Gaucher Disease - An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE)...
Gaucher Disease - An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE)...
Gilbert Disease - A benign familial disorder, transmitted as an autosomal dominant trait. It is characterized by low-g...
Gitelman Syndrome - An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KI...
Glucosephosphate Dehydrogenase Deficiency - A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of ...
Glycogen Storage Disease - A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and deg...
Glycogen Storage Disease Type I - An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resultin...
Glycogen Storage Disease Type II - An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE d...
Glycogen Storage Disease Type II - An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE d...
Glycogen Storage Disease Type II - An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE d...
Glycogen Storage Disease Type IIb - An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and MENTAL RETARDATI...
Glycogen Storage Disease Type III - An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one ...
Glycogen Storage Disease Type IV - An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching en...
Glycogen Storage Disease Type V - Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following susta...
Glycogen Storage Disease Type VI - A hepatic GLYCOGEN STORAGE DISEASE in which there is an apparent deficiency of hepatic phosphorylase...
Glycogen Storage Disease Type VII - An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphof...
Glycogen Storage Disease Type VIII - An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphor...
Glycosuria, Renal - An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBUL...
Gout - Hereditary metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and depositi...
Hartnup Disease - An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intes...
Hartnup Disease - An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intes...
Hemochromatosis - A disorder due to the deposition of hemosiderin in the parenchymal cells, causing tissue damage and ...
Hepatolenticular Degeneration - A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CO...
Hepatolenticular Degeneration - A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CO...
Hermanski-Pudlak Syndrome - Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET ...
Holocarboxylase Synthetase Deficiency - The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in hol...
Holocarboxylase Synthetase Deficiency - The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in hol...
Homocystinuria - Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHI...
Homocystinuria - Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHI...
Hyperargininemia - A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic e...
Hyperargininemia - A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic e...
Hyperbilirubinemia, Hereditary - Inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating...
Hyperglycinemia, Nonketotic - An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleava...
Hyperglycinemia, Nonketotic - An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleava...
Hyperhomocysteinemia - Condition in which the plasma levels of homocysteine and related metabolites are elevated (>13.9 µmo...
Hyperlipidemia, Familial Combined - A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma ...
Hyperlipoproteinemia Type I - An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a li...
Hyperlipoproteinemia Type II - A group of familial disorders characterized by elevated circulating cholesterol contained in either ...
Hyperlipoproteinemia Type III - An autosomal recessively inherited disorder characterized by the accumulation of intermediate-densit...
Hyperlipoproteinemia Type IV - A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by t...
Hyperlipoproteinemia Type V - A severe type of hyperlipidemia, sometimes familial, that it is characterized by the elevation of bo...
Hyperlysinemias - A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enz...
Hyperlysinemias - A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enz...
Hyperoxaluria, Primary - A genetic disorder characterized by excretion of large amounts of OXALATES in urine; NEPHROLITHIASIS...
Hypoalphalipoproteinemias - Conditions with abnormally low levels of ALPHA-LIPOPROTEINS (high-density lipoproteins) in the blood...
Hypobetalipoproteinemias - Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the ...
Hypokalemic Periodic Paralysis - An autosomal dominant familial disorder characterized by recurrent episodes of skeletal muscle weakn...
Hypolipoproteinemias - Conditions with abnormally low levels of LIPOPROTEINS in the blood. This may involve any of the lipo...
Hypophosphatasia - A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading t...
Hypophosphatemia, Familial - An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occ...
Hypophosphatemia, Familial - An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occ...
Hypophosphatemic Rickets, X-Linked Dominant - An X-linked disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phos...
Hypophosphatemic Rickets, X-Linked Dominant - An X-linked disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phos...
Ichthyosis, X-Linked - Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromo...
Jaundice, Chronic Idiopathic - A benign, autosomally recessive inherited hyperbilirubinemia characterized by the presence of a dark...
Lactose Intolerance - The condition resulting from the absence or deficiency of LACTASE in the MUCOSA cells of the GASTROI...
Lecithin Acyltransferase Deficiency - An autosomal recessively inherited disorder caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERA...
Leigh Disease - A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomot...
Leigh Disease - A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomot...
Lesch-Nyhan Syndrome - An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of p...
Lesch-Nyhan Syndrome - An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of p...
Leukodystrophy, Globoid Cell - An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to ...
Leukodystrophy, Globoid Cell - An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to ...
Leukodystrophy, Globoid Cell - An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to ...
Leukodystrophy, Metachromatic - An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to ...
Leukodystrophy, Metachromatic - An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to ...
Leukodystrophy, Metachromatic - An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to ...
Liddle Syndrome - Familial pseudoaldosteronism characterized by autosomal dominant inheritance of hypertension with HY...
Lipid Metabolism, Inborn Errors - Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable....
Lipidoses - Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such a...
Lysosomal Storage Diseases - Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting ...
Lysosomal Storage Diseases, Nervous System - A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal sy...
Lysosomal Storage Diseases, Nervous System - A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal sy...
Mannosidase Deficiency Diseases - Diseases caused by the loss of one or more enzymes involved in the hydrolysis of mannoside linkages ...
Mannosidase Deficiency Diseases - Diseases caused by the loss of one or more enzymes involved in the hydrolysis of mannoside linkages ...
Maple Syrup Urine Disease - An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a ...
Maple Syrup Urine Disease - An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a ...
MELAS Syndrome - A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or pe...
Menkes Kinky Hair Syndrome - An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the...
Menkes Kinky Hair Syndrome - An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the...
MERRF Syndrome - A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, p...
Metabolism, Inborn Errors - Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired...
Mevalonate Kinase Deficiency - Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutat...
Mevalonate Kinase Deficiency - Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutat...
Mineralocorticoid Excess Syndrome, Apparent - A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low R...
Mucolipidoses - A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of ac...
Mucolipidoses - A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of ac...
Mucolipidoses - A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of ac...
Mucopolysaccharidoses - Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in ...
Mucopolysaccharidoses - Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in ...
Mucopolysaccharidosis I - Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and c...
Mucopolysaccharidosis I - Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and c...
Mucopolysaccharidosis II - Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a defi...
Mucopolysaccharidosis II - Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a defi...
Mucopolysaccharidosis III - Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardatio...
Mucopolysaccharidosis III - Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardatio...
Mucopolysaccharidosis IV - Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint ins...
Mucopolysaccharidosis IV - Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint ins...
Mucopolysaccharidosis VI - Mucopolysaccharidosis with excessive chondroitin sulfate B in urine, characterized by dwarfism and d...
Mucopolysaccharidosis VI - Mucopolysaccharidosis with excessive chondroitin sulfate B in urine, characterized by dwarfism and d...
Mucopolysaccharidosis VII - Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurl...
Mucopolysaccharidosis VII - Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurl...
Multiple Acyl Coenzyme A Dehydrogenase Deficiency - An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS...
Multiple Carboxylase Deficiency - A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotony...
Multiple Carboxylase Deficiency - A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotony...
Multiple Sulfatase Deficiency Disease - An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containin...
Multiple Sulfatase Deficiency Disease - An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containin...
Multiple Sulfatase Deficiency Disease - An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containin...
Neuronal Ceroid-Lipofuscinoses - A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluo...
Niemann-Pick Disease, Type A - The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIEST...
Niemann-Pick Disease, Type A - The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIEST...
Niemann-Pick Disease, Type A - The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIEST...
Niemann-Pick Disease, Type B - An allelic disorder of TYPE A NIEMANN-PICK DISEASE, a late-onset form. It is also caused by mutation...
Niemann-Pick Disease, Type B - An allelic disorder of TYPE A NIEMANN-PICK DISEASE, a late-onset form. It is also caused by mutation...
Niemann-Pick Disease, Type B - An allelic disorder of TYPE A NIEMANN-PICK DISEASE, a late-onset form. It is also caused by mutation...
Niemann-Pick Disease, Type C - An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL a...
Niemann-Pick Disease, Type C - An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL a...
Niemann-Pick Disease, Type C - An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL a...
Niemann-Pick Diseases - A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the vis...
Niemann-Pick Diseases - A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the vis...
Niemann-Pick Diseases - A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the vis...
Oculocerebrorenal Syndrome - A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, an...
Oculocerebrorenal Syndrome - A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, an...
Oculocerebrorenal Syndrome - A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, an...
Ornithine Carbamoyltransferase Deficiency Disease - An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFE...
Ornithine Carbamoyltransferase Deficiency Disease - An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFE...
Paralyses, Familial Periodic - A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressiv...
Paralysis, Hyperkalemic Periodic - An autosomal dominant familial disorder which presents in infancy or childhood and is characterized ...
Peroxisomal Disorders - A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES...
Peroxisomal Disorders - A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES...
Phenylketonuria, Maternal - A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they becom...
Phenylketonuria, Maternal - A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they becom...
Phenylketonurias - A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE ...
Phenylketonurias - A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE ...
Piebaldism - Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hai...
Porphyria Cutanea Tarda - An autosomal dominant or acquired porphyria due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in...
Porphyria, Acute Intermittent - An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the L...
Porphyria, Erythropoietic - An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the...
Porphyria, Hepatoerythropoietic - An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXY...
Porphyria, Variegate - An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3....
Porphyrias - A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in...
Porphyrias, Hepatic - A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthe...
Progeria - An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is charact...
Propionic Acidemia - Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that r...
Protoporphyria, Erythropoietic - An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in b...
Pseudohypoaldosteronism - A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congen...
Pseudohypoparathyroidism - A hereditary condition clinically resembling HYPOPARATHYROIDISM, but caused by failure of response t...
Pseudopseudohypoparathyroidism - A genetically related form of PSEUDOHYPOPARATHYROIDISM characterized by the same features except for...
Pyruvate Carboxylase Deficiency Disease - An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activit...
Pyruvate Carboxylase Deficiency Disease - An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activit...
Pyruvate Dehydrogenase Complex Deficiency Disease - An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE CO...
Pyruvate Dehydrogenase Complex Deficiency Disease - An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE CO...
Pyruvate Metabolism, Inborn Errors - Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyr...
Refsum Disease - An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SEN...
Refsum Disease - An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SEN...
Refsum Disease, Infantile - An early onset form of phytanic acid storage disease with clinical and biochemical signs different f...
Refsum Disease, Infantile - An early onset form of phytanic acid storage disease with clinical and biochemical signs different f...
Renal Aminoacidurias - A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS...
Renal Tubular Transport, Inborn Errors - Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES....
Sandhoff Disease - An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOS...
Sandhoff Disease - An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOS...
Sandhoff Disease - An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOS...
Sandhoff Disease - An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOS...
Sea-Blue Histiocyte Syndrome - A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID...
Sea-Blue Histiocyte Syndrome - A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID...
Sea-Blue Histiocyte Syndrome - A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID...
Sialic Acid Storage Disease - Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that ...
Sialic Acid Storage Disease - Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that ...
Sjogren-Larsson Syndrome - An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION...
Smith-Lemli-Opitz Syndrome - An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydro...
Smith-Lemli-Opitz Syndrome - An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydro...
Sphingolipidoses - A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGO...
Sphingolipidoses - A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGO...
Sphingolipidoses - A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGO...
Steroid Metabolism, Inborn Errors - Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherite...
Sulfatidosis - A group of inherited metabolic disorders characterized by the intralysosomal accumulation of sulfur-...
Sulfatidosis - A group of inherited metabolic disorders characterized by the intralysosomal accumulation of sulfur-...
Sulfatidosis - A group of inherited metabolic disorders characterized by the intralysosomal accumulation of sulfur-...
Tangier Disease - An autosomal recessively inherited disorder caused by mutation of ATP-BINDING CASSETTE TRANSPORTERS ...
Tay-Sachs Disease - An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exagge...
Tay-Sachs Disease - An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exagge...
Tay-Sachs Disease - An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exagge...
Tay-Sachs Disease, AB Variant - A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startl...
Tay-Sachs Disease, AB Variant - A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startl...
Tay-Sachs Disease, AB Variant - A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startl...
Tyrosinemias - A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to...
Tyrosinemias - A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to...
Urea Cycle Disorders, Inborn - Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that resu...
Urea Cycle Disorders, Inborn - Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that resu...
Wolman Disease - The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid li...
Wolman Disease - The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid li...
Xanthomatosis, Cerebrotendinous - An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding sterol 27...
Zellweger Syndrome - An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 ...
Zellweger Syndrome - An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 ...
Common Chronic Illnesses
Coronary Disease
An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.
Diabetes Mellitus, Type 1
A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.
Diabetes Supplies | Diabetic Groups
Diabetes Mellitus, Type 2
A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.
Free Diabetes Supplies
Hypertension
Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more.
Mesothelioma
A tumor derived from mesothelial tissue (peritoneum, pleura, pericardium). It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. (Dorland, 27th ed)
Osteoarthritis
A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans.
