Beta-Methylcrotonylglycinuria

Preferred Label : Beta-Methylcrotonylglycinuria;

NCIt synonyms : Beta-methylcrotonyglycinuria (Types I or II);

NCIt definition : A very rare metabolic disorder characterized by an inborn error in the leucine degradation pathway. Patients excrete large amounts of beta-methyl-crotonylglycine in the urine.;

Details

Origin ID

C84597;

UMLS CUI

C2827494;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
disease_has_finding
- Rare Lesion [NCIt concept]

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