Classic maple syrup urine disease

MONDO:0017051

Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD 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.

Also known as: classic BCKD deficiency, classic MSUD, classic branched-chain 2-ketoacid dehydrogenase deficiency, classic branched-chain alpha-ketoacid dehydrogenase deficiency, classic branched-chain ketoaciduria, classic maple syrup urine disease

0 clinical trials for this condition and its sub-types.

Follow this condition — get notified about new trials

Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) Inborn organic aciduria (5) Inborn disorder of amino acid metabolism (4) Disease of genetic or genomic mechanism (2) Maple syrup urine disease (2) Amino acid metabolism disease (1)

We haven't found any trials for this condition yet. Follow it to get notified when new trials appear.