Classic maple syrup urine disease

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Classic maple syrup urine disease

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

Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth poor feeding lethargy and focal dystonia followed by progressive encephalopathy and central respiratory failure if untreated.

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: // Data version September 2023.

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Classic 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.