Q. Clinical manifestations of maple syrup urine disease?

Clinical manifestations are expressed upon protein loading or with febrile illness. In most severely impaired enzyme deficiency, seizures, apnea (brief pause in breathing) and death may occur. In untreated patients with classic MSUD who survive beyond early infancy, there is retardation of physical and mental development. Early diagnosi3 and therapy lead to normal growth and development.

Most infants with classic MSUD have greater than 8 mg/dl leucine at 72 hours of age. Diagnosis is confirmed using ion exchange chromatography to quantify plasma isoleucine, leucine, valine and alloisoleucine, and urinary branched chain a keto acids.