Intermediate maple syrup urine disease

Orpha code: 268162OMIM code: 615135

Definition

Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD (see this term) characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.

Disease data
Classification

Clinical subtype

Synonyms
Intermediate BCKD deficiency
Pośredni Niedobór BCKD
Pośredni Niedobór dehydrogenazy ketokwasów rozgałęzionych
Postać pośrednia MSUD
Intermediate MSUD
Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency
ORPHA code
268162
OMIM code
615135
ICD10 code
E71.0
ICD11 code
5C50.D0

No additional description.

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