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Results 1 - 10 of 31 for Disorder of amino acid metabolism
  1. Maple syrup urine disease 
    ... Nagamani SC, Campeau PM, Lee BH. Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders. Hum Mol Genet. 2014 ...
    https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease - Genetics
  2. Homocystinuria 
    ... Watkins D, Rosenblatt DS. Inherited defects of cobalamin metabolism. Vitam Horm. 2022;119:355-376. doi: 10.1016/bs.vh.2022.01.010. Epub 2022 Feb 21. Citation on PubMed
    https://medlineplus.gov/genetics/condition/homocystinuria - Genetics
  3. Hypermethioninemia 
    ... adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of ... ME. The sulfur-containing amino acids: an overview. J Nutr. 2006 Jun;136(6 ...
    https://medlineplus.gov/genetics/condition/hypermethioninemia - Genetics
  4. Propionic acidemia 
    Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an ...
    https://medlineplus.gov/genetics/condition/propionic-acidemia - Genetics
  5. Methylmalonic acidemia with homocystinuria 
    ... to convert the amino acid homocysteine to another amino acid, methionine. Individuals with this disorder have a combination of features from two separate ...
    https://medlineplus.gov/...ethylmalonic-acidemia-with-homocystinuria - Genetics
  6. Asparagine synthetase deficiency 
    ... Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome Disorder of asparagine metabolism Genetic Testing Registry: Congenital microcephaly - severe encephalopathy - progressive ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics
  7. Glutamate formiminotransferase deficiency 
    ... in the last two steps in the breakdown (metabolism) of the amino acid histidine, a building block of most proteins. It ...
    https://medlineplus.gov/...glutamate-formiminotransferase-deficiency - Genetics
  8. Arginase deficiency 
    Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually in the blood. Ammonia, which is formed when proteins are ...
    https://medlineplus.gov/genetics/condition/arginase-deficiency - Genetics
  9. Tetrahydrobiopterin deficiency 
    ... 01)00669-6. Citation on PubMed Longo N. Disorders of biopterin metabolism. J Inherit Metab Dis. 2009 Jun;32(3): ... 1002/med.10055. Citation on PubMed Shintaku H. Disorders of tetrahydrobiopterin metabolism and their treatment. Curr Drug Metab. 2002 Apr; ...
    https://medlineplus.gov/.../condition/tetrahydrobiopterin-deficiency - Genetics
  10. Isobutyryl-CoA dehydrogenase deficiency 
    ... MT, Kishnani PS, Chen YT, Millington DS. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by ...
    https://medlineplus.gov/.../isobutyryl-coa-dehydrogenase-deficiency - Genetics
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