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©2013 UpToDate ® Print Email Major causes of hereditary ataxias due to known enzymatic defects 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 Arginosuccinaciduria 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 taporetinal dystrophy Xpter-p22 Arylsulfatase C