Intermediate maple syrup urine disease

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Intermediate maple syrup urine disease

Synonyms: Intermediate BCKD deficiency | Intermediate MSUD | Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version March 2024

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Intermediate maple syrup urine disease?

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Clinical Trials

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