bn:01214425n
Noun Concept
Categories: Rare diseases, Autosomal recessive disorders, Amino acid metabolism disorders
EN
beta-ketothiolase deficiency  peroxisomal thiolase deficiency  2-alpha-methyl-3-hydroxybutyricacidemia  2-Methyl-3-Hydroxybutyric Acidemia  2-methyl-3-hydroxybutyricacidemia
EN
Beta-ketothiolase deficiency is a rare, autosomal recessive metabolic disorder in which the body cannot properly process the amino acid isoleucine or the products of lipid breakdown. Wikipedia
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