RESUMEN
We report a child with an isolated complex III respiratory chain deficiency and global developmental delay who had severe pruritus with elevated plasma bile acid levels. A liver biopsy showed micronodular cirrhosis, and enzymologic evaluation demonstrated an isolated complex III deficiency in both liver and muscle. His pruritus improved and serum bile acid levels decreased after treatment with menadione and vitamin C.
Asunto(s)
Ácido Ascórbico/uso terapéutico , Complejo III de Transporte de Electrones/deficiencia , Errores Innatos del Metabolismo/tratamiento farmacológico , Prurito/tratamiento farmacológico , Vitamina K/uso terapéutico , Anemia Ferropénica/diagnóstico , Anemia Ferropénica/tratamiento farmacológico , Anemia Ferropénica/metabolismo , Ácidos y Sales Biliares/sangre , Preescolar , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/tratamiento farmacológico , Discapacidades del Desarrollo/metabolismo , Quimioterapia Combinada , Transporte de Electrón , Humanos , Masculino , Errores Innatos del Metabolismo/diagnóstico , Errores Innatos del Metabolismo/metabolismo , Prurito/diagnóstico , Prurito/metabolismoRESUMEN
A profoundly deaf female infant was found to have hypoglycemia and lactic acidemia after an episode of decreased oral intake and vomiting. Electron transport chain (ETC) enzyme studies revealed a combination defect of complexes I, III, and IV in liver but not in skeletal muscle. This case highlights the fact that defects of the ETC are clinically highly heterogeneous and should be considered with hypoglycemia and lactic acidosis in the absence of a glycogen storage disorder. Moreover, ETC defects can occur with a biochemical profile suggestive of a fatty acid oxidation disorder.