Enfermedad de orina con olor a jarabe de arce: enfrentamiento de un caso / Maple syrup urine disease: case management

Maple syrup urine disease (MSUD) is an amino acidopathy secondary to a catabolic defect of branched amino acids (aa) valine, isoleucine and leucine (VIL). The accumulation of these elements and their keto acids in body fluids leads to encephalopathy and progressive neurological degeneration in untreated children (2-4-5-6)). The case of a newborn is analysed presenting with a classic form of this disease, its clinical evolution with metabolic and neurological involvement, diagnosis and intrahospital care till discharge.

Plasma amino acid analyses in two cases of maple syrup urine disease.

Maple syrup urine disease is a rare inborn error of metabolism, characterized by elevated plasma levels of branched chain amino acids and urinary excretion of branched chain keto acids. Plasma amino acid levels in two subjects were followed by deproteinizing plasma, derivatizing the free amino acids with phenylisothiocyanate, and analysis by HPLC. The results indicate that valine, leucine and isoleucine are elevated in Maple syrup urine disease, and that leucine remains high even after dietary treatment.