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Results 1 - 6 of 6 for Disorder of isoleucine metabolism
  1. Short/branched chain acyl-CoA dehydrogenase deficiency 
    ... methylbutyryl-CoA dehydrogenase deficiency ... distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. Am J Hum Genet. 2000 Nov;67(5): ...
    https://medlineplus.gov/...d-chain-acyl-coa-dehydrogenase-deficiency - Genetics
  2. HSD10 disease 
    ... HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and ... 2011 Nov 30. Citation on PubMed
    https://medlineplus.gov/genetics/condition/hsd10-disease - Genetics
  3. ACADSB gene 
    ... properly. Researchers speculate that some features of this disorder, such as lethargy and muscle ... distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. Am J Hum Genet. 2000 Nov;67(5): ...
    https://medlineplus.gov/genetics/gene/acadsb - Genetics
  4. Methylmalonic acidemia 
    ... of several conditions called an "inborn error of metabolism." ... also recommend a diet that avoids substances called isoleucine, ... with new cells that help breakdown methylmalonic acid normally.
    https://medlineplus.gov/ency/article/001162.htm - Medical Encyclopedia
  5. Maple syrup urine disease 
    ... protein complex, preventing the normal breakdown of leucine, isoleucine, and valine. As a result, these amino acids and their ... Nagamani SC, Campeau PM, Lee BH. Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders. ...
    https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease - Genetics
  6. Maple syrup urine disease 
    ... tests may be done to check for this disorder: Plasma amino acid test Urine organic acid test Genetic testing There will be signs of ketosis (buildup of ketones, a by-product of burning fat for energy) and excess acid in the blood (acidosis).
    https://medlineplus.gov/ency/article/000373.htm - Medical Encyclopedia