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Reference

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A reference for what the literature reports. Not medical advice.

Disease

inborn disorder of branched-chain amino acid metabolism

MONDO:0019242Mondo

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Findings

No curated finding names inborn disorder of branched-chain amino acid metabolism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process.

Definition from the Mondo Disease Ontology (MONDO:0019242), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: inborn disorder of amino acid metabolism
Narrower terms (5): branched-chain keto acid dehydrogenase kinase deficiency
holocarboxylase synthetase deficiency
hypervalinemia and hyperleucine-isoleucinemia
maple syrup urine disease
methylmalonate semialdehyde dehydrogenase deficiency

Other names

4 names

Resolves to: inborn disorder of branched-chain amino acid metabolism

Also called: disorder of branched-chain amino acid metabolisminborn branched-chain amino acid metabolic process disorderinborn error of branched-chain amino acid metabolic processrare inborn error of branched-chain amino acid metabolic process