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Results 1 - 6 of 6 for Disorder of organic acid metabolism
  1. Propionic acidemia 
    ... lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the ...
    https://medlineplus.gov/genetics/condition/propionic-acidemia - Genetics
  2. Maple syrup urine disease 
    ... 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
  3. SLC22A5 gene 
    ... deficiency, such as muscle weakness and hypoglycemia. Fatty acids can also build up in cells ... carnitine cotransporter novel organic cation transporter 2 OCTN2 organic cation transporter 5 ...
    https://medlineplus.gov/genetics/gene/slc22a5 - Genetics
  4. Primary carnitine deficiency 
    ... deficiency, such as muscle weakness and hypoglycemia. Fatty acids can also build up in cells and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of the disorder. SLC22A5 This condition is inherited in an autosomal ...
    https://medlineplus.gov/.../condition/primary-carnitine-deficiency - Genetics
  5. Short/branched chain acyl-CoA dehydrogenase deficiency 
    ... 2-methylbutyryl-CoA dehydrogenase deficiency) is a rare disorder in which the body is unable to process proteins properly. Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide ...
    https://medlineplus.gov/...d-chain-acyl-coa-dehydrogenase-deficiency - Genetics
  6. ACADSB gene 
    ... of this enzyme that is missing several amino acids. As a result of these ... of this disorder, such as lethargy and muscle weakness, occur because ...
    https://medlineplus.gov/genetics/gene/acadsb - Genetics