Multiple acyl-CoA dehydrogenase deficiency occurring in pregnancy and caused by a defect in riboflavin metabolism in the mother. Study of a kindred with seven deaths in infancy: Value of riboflavin therapy in preventing this syndrome.
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.
D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D000328:Adult; D001942:Breast Feeding; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008659:Metabolic Diseases / Q000188:drug therapy / Q000235:genetics / Q000652:urine; D008661:Metabolism, Inborn Errors / Q000517:prevention & control / Q000652:urine; D009812:Odorants; D010375:Pedigree; D011247:Pregnancy; D011248:Pregnancy Complications / Q000188:drug therapy / Q000378:metabolism*; D012256:Riboflavin / Q000378:metabolism* / Q000627:therapeutic use; D013577:Syndrome
D044944:Acyl-CoA Dehydrogenases; D012256:Riboflavin