title: Glutaric aciduria type II: biochemical investigation and treatment of a child diagnosed prenatally.
abstract: Two sibs with the acute neonatal form of glutaric aciduria type II (deficient in vivo activity of multiple acyl-CoA dehydrogenases) are described. In the second case diagnosis was made prenatally on the basis of reduced oxidation of palmitate by cultured amniotic fluid cells. With prompt intervention in the neonatal period and a carefully controlled diet later, this second progressed well up to 4 months of age but died suddenly of cardiac failure, probably attributable to accumulation of fat. Neither patient showed any congenital morphological abnormality. Cultured fibroblasts from the second case showed a marked defect in the oxidation of a range of substrates requiring acyl-CoA dehydrogenases for their catabolism, but residual activity for some substrates was quite high. Large quantities of sarcosine were excreted in urine, again suggesting that the mutation leaves some residual dehydrogenation activity. Butyryl-, octanoyl- and palmitoyl-CoA dehydrogenases were present in essentially normal quantities in postmortem liver.
mesh_terms: D000272:Adipates / Q000652:urine; D002245:Carbon Dioxide / Q000378:metabolism; D044943:Fatty Acid Desaturases / Q000172:deficiency*; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007231:Infant, Newborn; D008099:Liver / Q000201:enzymology; D008239:Lysine / Q000378:metabolism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012521:Sarcosine / Q000652:urine
chemical_list: D000272:Adipates; D005227:Fatty Acids; D005977:Glutarates; D002245:Carbon Dioxide; C019417:alpha-hydroxyglutarate; C029900:adipic acid; D044943:Fatty Acid Desaturases; C035736:glutaric acid; D008239:Lysine; D012521:Sarcosine