Version May 2024
| 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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