RESUMEN

Seven infants in one kindred died: one was stillborn; the others, who were floppy at birth and were breast-fed, developed a disorder with the odor of sweaty feet and died in early infancy. In two further pregnancies, 3-hydroxvisovaleric, glutaric, and C6-C10-dicarboxylic acids were demonstrated in the mother's urine during the seventh month. Riboflavin therapy in the last trimester of pregnancy and a riboflavin-rich diet given the infants prevented this syndrome. The presence of abnormal erythrocyte glutathione-reductase activity in the mother while she excreted normal amounts of riboflavin in her urine indicates a probable disorder of riboflavin metabolism resulting in multiple acyl-CoA dehydrogenase deficiency.

Asunto(s)

Acil-CoA Deshidrogenasas/deficiencia , Complicaciones del Embarazo/metabolismo , Riboflavina/metabolismo , Adulto , Lactancia Materna , Femenino , Humanos , Recién Nacido , Masculino , Enfermedades Metabólicas/tratamiento farmacológico , Enfermedades Metabólicas/genética , Enfermedades Metabólicas/orina , Errores Innatos del Metabolismo/prevención & control , Errores Innatos del Metabolismo/orina , Odorantes , Linaje , Embarazo , Complicaciones del Embarazo/tratamiento farmacológico , Riboflavina/uso terapéutico , Síndrome