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Results 1 - 6 of 6 for Inborn disorder of amino acid transport
  1. Hartnup disorder 
    Hartnup disorder is a genetic condition in which there is a defect in the transport of certain amino acids (such as tryptophan and histidine) by the small intestine and kidneys.
    https://medlineplus.gov/ency/article/001201.htm - Medical Encyclopedia
  2. GAMT gene 
    ... the GAMT gene cause guanidinoacetate methyltransferase deficiency, a disorder that involves intellectual disability and seizures. Most affected individuals of Portuguese ancestry have a particular mutation in which the amino acid tryptophan is replaced by the amino acid serine ...
    https://medlineplus.gov/genetics/gene/gamt - Genetics
  3. Guanidinoacetate methyltransferase deficiency 
    ... the importance of creatine synthesis in the brain. Amino Acids. 2011 May;40(5):1315-24. doi: 10.1007/s00726-011-0852-z. Epub 2011 Mar 10. Citation on PubMed Braissant O. GAMT deficiency: 20 years of a treatable inborn error of metabolism. Mol Genet Metab. 2014 Jan; ...
    https://medlineplus.gov/...idinoacetate-methyltransferase-deficiency - Genetics
  4. Arginine:glycine amidinotransferase deficiency 
    ... of arginine:glycine amidinotransferase deficiency is unknown. The disorder has been ... glycine, arginine, and methionine. Specifically, arginine:glycine amidinotransferase ...
    https://medlineplus.gov/...nineglycine-amidinotransferase-deficiency - Genetics
  5. GATM gene 
    ... Gene ClinVar ... and the importance of creatine synthesis in the brain. Amino Acids. 2011 May;40(5):1315-24. doi: 10. ...
    https://medlineplus.gov/genetics/gene/gatm - Genetics
  6. ABCD4 gene 
    ... enzyme converts the amino acid homocysteine to another amino acid, ... two proteins transport vitamin B12 out of lysosomes, making it available ...
    https://medlineplus.gov/genetics/gene/abcd4 - Genetics