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 http://www.orphadata.org. Data version December 2023

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Intermediate maple syrup urine disease?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.