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Concept information

disease > genetic disease > hereditary disease > isovaleric acidemia
disease > enzymopathy > isovaleric acidemia

Preferred term

isovaleric acidemia  

Definition(s)

  • Isovaleric acidemia is a rare autosomal recessive metabolic disorder which disrupts or prevents normal metabolism of the branched-chain amino acid leucine. (Wikipedia)

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URI

http://data.loterre.fr/ark:/67375/VH8-Z2B6G9GP-W

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RDF/XML TURTLE JSON-LD Last modified 5/14/20