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Results 1 - 10 of 94 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. SLC40A1 gene 
    ... usually begins during adulthood. Hereditary hemochromatosis is a disorder ... acid) in ferroportin. Abnormal ferroportin proteins cannot transport and ...
    https://medlineplus.gov/genetics/gene/slc40a1 - Genetics
  6. TFR2 gene 
    ... usually before age 30. Hereditary hemochromatosis is a disorder that causes ... building blocks (amino acids) or proteins that are too short to function ...
    https://medlineplus.gov/genetics/gene/tfr2 - Genetics
  7. 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
  8. 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
  9. 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
  10. 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
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