title: Postnatal and antenatal laboratory diagnosis of glutaric aciduria II in a South African family.
abstract: Glutaric aciduria type II (GA II) was proved in a neonate who presented shortly after birth with respiratory distress, metabolic acidosis, non-ketotic hypoglycaemia and a sweaty-feet-like odour. The diagnosis was based on elevated levels of glutaric and other acids in the urine and on studies on cultured skin fibroblasts where defective metabolism of fatty acids of varying chain length was demonstrated. Antenatal diagnosis was performed on a subsequent pregnancy in this family where an abnormal amniotic fluid organic acid profile together with defective fatty acid oxidation in cultured amnion cells was indicative of GA II in the fetus. This is the first report of this genetic disorder in a South African family and it should be considered in suspected organic acidaemia in the neonatal period.
mesh_terms: D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D005977:Glutarates; C035736:glutaric acid