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Brain Diseases, Metabolic, Inborn

Categorical breakdown of terms falling inder the category of Brain Diseases, Metabolic, Inborn. Sub categories will become more specific in nature to the terms listed for Brain Diseases, Metabolic, Inborn.

Sub-Categories

• Cerebral Amyloid Angiopathy, Familial
• Galactosemias
• Hartnup Disease
• Hepatolenticular Degeneration
• Homocystinuria
• Hyperglycinemia, Nonketotic
• Hyperlysinemias
• Leigh Disease
• Lesch-Nyhan Syndrome
• Lysosomal Storage Diseases, Nervous System
  • Fucosidosis
  • Glycogen Storage Disease Type II
  • Mucolipidoses
  • Sialic Acid Storage Disease
  • Sphingolipidoses
    • Fabry Disease
    • Farber Lipogranulomatosis
    • Gangliosidoses
      • Gangliosidoses, GM2
        • Sandhoff Disease
        • Tay-Sachs Disease
        • Tay-Sachs Disease, AB Variant
      • Gangliosidosis, GM1
      • Sandhoff Disease
    • Gaucher Disease
    • Leukodystrophy, Globoid Cell
    • Niemann-Pick Diseases
      • Niemann-Pick Disease, Type A
      • Niemann-Pick Disease, Type B
      • Niemann-Pick Disease, Type C
    • Sea-Blue Histiocyte Syndrome
    • Sulfatidosis
      • Leukodystrophy, Metachromatic
      • Multiple Sulfatase Deficiency Disease
• Maple Syrup Urine Disease
• MELAS Syndrome
• Menkes Kinky Hair Syndrome
• MERRF Syndrome
• Oculocerebrorenal Syndrome
• Peroxisomal Disorders
  • Adrenoleukodystrophy
  • Mevalonate Kinase Deficiency
  • Refsum Disease
  • Refsum Disease, Infantile
  • Zellweger Syndrome
• Phenylketonurias
  • Phenylketonuria, Maternal
• Pyruvate Carboxylase Deficiency Disease
• Pyruvate Dehydrogenase Complex Deficiency Disease
• Tyrosinemias
• Urea Cycle Disorders, Inborn
  • Argininosuccinic Aciduria
  • Carbamoyl-Phosphate Synthase I Deficiency Disease
  • Citrullinemia
  • Hyperargininemia
  • Ornithine Carbamoyltransferase Deficiency Disease

Terms

Adrenoleukodystrophy - An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty ...

Argininosuccinic Aciduria - Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosucci...

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...

Cerebral Amyloid Angiopathy, Familial - A familial disorder marked by AMYLOID deposits in the walls of small and medium sized blood vessels ...

Citrullinemia - A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an...

Fabry Disease - An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. I...

Farber Lipogranulomatosis - A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous dep...

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...

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) ...

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)...

Glycogen Storage Disease Type II - An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE d...

Hartnup Disease - An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intes...

Hepatolenticular Degeneration - A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CO...

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...

Hyperglycinemia, Nonketotic - An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleava...

Hyperlysinemias - A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enz...

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...

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 ...

Lysosomal Storage Diseases, Nervous System - A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal sy...

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...

MERRF Syndrome - A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, p...

Mevalonate Kinase Deficiency - Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutat...

Mucolipidoses - A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of ac...

Multiple Sulfatase Deficiency Disease - An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containin...

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 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...

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...

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...

Phenylketonurias - A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE ...

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...

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...

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...

Sialic Acid Storage Disease - Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that ...

Sphingolipidoses - A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGO...

Sulfatidosis - A group of inherited metabolic disorders characterized by the intralysosomal accumulation of sulfur-...

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...

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...

Zellweger Syndrome - An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 ...

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