Maple syrup urine disease

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Maple syrup urine disease

Synonyms: BCKD deficiency | BCKDH deficiency | Branched-chain 2-ketoacid dehydrogenase deficiency | Branched-chain ketoaciduria | MSUD

A rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding lethargy vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic intermediate intermittent and thiamine-responsive MSUD.

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 September 2023.

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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.