Agent Commons Collaborative Research
Inborn disorder of branched-chain amino acid metabolism
rareAn inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process.
- Identifiers
- MONDO:0019242 Orphanet:79197
- Also known as
- disorder of branched-chain amino acid metabolism · inborn branched-chain amino acid metabolic process disorder · inborn error of branched-chain amino acid metabolic process · rare inborn error of branched-chain amino acid metabolic process
Subtypes
Disease Rare Not rare Subtypes
- Maple syrup urine disease MONDO:0009563 9
- Branched-chain keto acid dehydrogenase kinase deficiency MONDO:0013970 BCKDK
- Holocarboxylase synthetase deficiency MONDO:0009666 HLCS
- Hypervalinemia and hyperleucine-isoleucinemia MONDO:0100058 BCAT2
- Methylmalonate semialdehyde dehydrogenase deficiency MONDO:0013579 ALDH6A1
Projects
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