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Branched-chain aminoaciduria

MedGen UID:: 1749337
•Concept ID:: C5421601
•: Finding

HPO:	HP:0033089

Definition

An increased level of a branched chain family amino acid in the urine. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVBranched-chain aminoaciduria

Abnormality of the urinary system
- Abnormality of the urinary system physiology
  - Abnormality of urine homeostasis
    - Abnormal urine metabolite level
      - Aminoaciduria
        Increased proteinogenic amino acid level in urine
        Branched-chain aminoaciduria
        Isoleucinuria
        Leucinuria
        Valinuria

Recent clinical studies

Diagnosis

Bogus branched-chain aminoaciduria.

Payne RB, Johnson KR
J Clin Pathol 1973 Apr;26(4):313-4. doi: 10.1136/jcp.26.4.313. PMID: 4701801 Free PMC Article

Therapy

Maple syrup urine disease. Thiamin responsive branched chain aminoaciduria: a unique case in an adult: (case report).

Kannan V, Subramanyam K
J Assoc Physicians India 1977 Feb;25(2):163-6. PMID: 914742

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