Disorder | Gene locus and protein | |
Intermittent ataxias | ||
Hyperammonemias and aminoacidurias | ||
Ornithine transcarbamylase deficiency | Xp21.1 | Ornithine transcarbamylase |
Citrullinemia | 9q34 | Arginosuccinate synthetase |
Arginase deficiency | 6q23 | Arginase |
Argininosuccinic aciduria | 7cen-q11 | Arginosuccinate lyase |
Hyperornithemia-hyperammonemia- homocitrullinuria syndrome | 13q14 | Mitochondrial ornithine transporter |
Hartnup disease | 5p15.33 | Neutral amino acid transporter |
Isovaleric acidemia | 15q14 | Isovaleric acid CoA dehydrogenase |
Disorders of pyruvate and lactate metabolism | ||
Pyruvate dehydrogenase complex | Xp22.2 (most common) | E1-alpha subunit (most common) |
Multiple carboxylase deficiency | 21q22 | Holocarboxylase synthetase |
Progressive ataxias | ||
Tay-Sachs disease | 15q23-q24 | Alpha subunit of hexosaminidase A |
Sandhoff disease | 15q13 | Beta subunit of hexosaminidase A and B |
Niemann-Pick type A and B | 11p15.4-p15.1 | Acid sphingomyelinase |
Niemann-Pick type C | 18q11-q12 | NPC1 |
14q24.3 | NPC2 | |
Metachromatic leukodystrophy | 22q13 | Arylsulfatase A |
Adrenomyeloneuropathy | Xq28 | Adrenoleukodystrophy protein |
Abetalipoproteinemia | 4q22 | Microsomal triglyceride transfer protein |
Hypobetalipoproteinemia | 2p24 | Apolipoprotein B |
Cerebrotendinous xanthomatosis | 2q33 | Mitochondrial sterol 27-hydroxylase |
Ataxia with vitamin E deficiency | 8q13 | Alpha-tocopherol transfer protein |
Lesch-Nyhan syndrome | Xq26 | Hypoxanthine-guanine phosphoribosyl- transferase |
Wilson disease | 13q14 | ATP7B (copper transporting ATPase) |
Ceroid lipofuscinosis | Several variants | Multiple gene products |
Refsum disease | 10pter | Phytanoyl CoA hydroxylase |
X-linked ataxia, ichthyosis, and tapetoretinal dystrophy | Xpter-p22 | Arylsulfatase C |
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