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.
Newly diagnosed with
Maple syrup urine disease?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Canadian PKU and Allied Disorders (CanPKU)
To help those who live with rare diseases that are manage by a restricted protein medical diet bringing education, awareness and advocacy to the community
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).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Clinical Trials
For a list of clinical trials in this disease area, please click here.