Maple syrup urine disease, mild variant

Preferred Label : Maple syrup urine disease, mild variant;

Symbol : MSUDMV;

CISMeF acronym : MSUDMV;

Type : Phenotype, molecular basis known;

Description : The mild variant of MSUD is characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth. Treatment with a low-protein diet free of BCAA can result in normal psychomotor development and lack of metabolic episodes; however, plasma levels of;

Prefixed ID : #615135;

Details

Origin ID

615135;

UMLS CUI

C3554575;

DO Cross reference
- maple syrup urine disease [DO Concept]
Genes related to phenotype
- Protein phosphatase, magnesium/manganese-dependent, 1k [OMIM gene]
ORDO concept(s)
- Intermediate maple syrup urine disease [ORDO Disease]
- Maple syrup urine disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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