Maple-Syrup Urine Disease

Maple-syrup urine disease (MSUD) is an autosomal-recessive deficiency of branched-chain alpha-ketoacid dehydrogenase, causing accumulation of leucine/isoleucine/valine and their ketoacids. Classic form presents in the first week: poor feeding, vomiting, encephalopathy, Sweet (maple-syrup) odor of urine/cerumen, and progressive neurodegeneration if untreated. Newborn screening detects it. Treatment: special low-branched-chain-amino-acid formula, strict metabolic control, and emergency management of decompensation; liver transplant in severe cases.

Common Symptoms

Sweet/maple-syrup odor of urine; poor feeding; vomiting; encephalopathy; seizures; neurodegeneration; abnormal movements

Causes and Pathogenesis

Branched-chain alpha-ketoacid-dehydrogenase deficiency blocks leucine/isoleucine/valine catabolism; toxic ketoacid accumulation causes neurotoxicity.

Treatment

Low-branched-chain-amino-acid diet/special formula; careful metabolic control during illness; liver transplant in severe cases

Preventive Measures

Newborn screening; genetic counseling; emergency sick-day protocol.

Department to Visit

It is recommended to visit the Pediatrics department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.