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Elevated circulating L-alloisoleucine concentration

MedGen UID:: 1753697
•Concept ID:: C5421646
•: Finding

HPO:	HP:0033155

Definition

Abnormally increased concentration of L-alloisoleucine in the blood circulation. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVElevated circulating L-alloisoleucine concentration

Abnormality of metabolism/homeostasis
- Abnormal circulating metabolite concentration
  - Abnormal circulating organic compound concentration
    - Abnormal circulating carboxylic acid concentration
      - Abnormal circulating amino acid concentration
        Abnormal circulating proteinogenic amino acid derivative concentration
        Elevated circulating L-alloisoleucine concentration

Conditions with this feature

Maple syrup urine disease type 1A

MedGen UID:: 383668
•Concept ID:: C1855369
•: Disease or Syndrome

A maple syrup urine disease caused by mutations in BCKDHA.

See: Condition Record

Maple syrup urine disease type 1A

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ClinicalTrials.gov

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Elevated circulating L-alloisoleucine concentration
Elevated circulating L-alloisoleucine concentration

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