Genetical and clinical survey of Maple syrup urine disease patients

Abstract

A 54-day old male infant was referred to the hospital because of weakness, lethargy, poor feeding, general hypotonia, nystagmus, pollakisuria and seizures. Blood gas analysis revealed metabolic acidosis. PT and PTT was disturbed. Brain sonography showed possible hemorrhagy in basal ganglia. The patient died in respiratory distress. Urine chromatography showed broad leucine, isoleucine and valine bands. Maple syrup urine disease was diagnosed. We review in brief genetical, biochemical and clinical aspects of maple syrup urine disease and its different types