Maple syrup urine disease is an inherited disease of amino acid metabolism that causes acidosis , central nervous system symptoms, and urine that may smell sweet like maple syrup.

Basic Info

Symptoms

Avoiding food; Coma; Feeding difficulties; Lethargy; Seizures; Urine that smells like maple syrup; Vomiting.

Causes

Maple syrup urine disease (MSUD) is caused by a gene defect. Persons with this condition cannot break down the branched...

Tests

Urine amino acid test; Plasma amino acid test. There will be signs of ketosis and acidosis (excess acid in blood.

Treatments

Treatment involves a protein-free diet. During a flare up, fluids, sugars, and fats are given by IV. Peritoneal dialysi...

Drugs

fat emulsion, intravenous
LVP solution

Supplements

thiamine

Risk Factors

Infant, Newborn

Complications

Coma; Death; Neurological damage.

Prevention

Genetic counseling is suggested for prospective parents with a family history of maple syrup urine disease. Some states...

Doctor Specialties

Call your health care provider if you have a family history of MSUD and are planning to start a family. Also call immed...

Basic Info

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Maple syrup urine disease