cysts. Selective proximal tubular damage leads to glycosuria and generalized amino aciduria. The patient came from an inbred Louisiana Cajun community and had a sib who also died in the newborn period.Patients with severe deficiency of the ETF dehydrogenase type have distinctive congenital malformations, whereas those with ETF deficiency do not; the severity of the metabolic block, rather than its location, and the resulting profound acidosis in utero may disturb normal morphogenesis. Colevas et al. (1988) described the pathologic findings in 2 cases. The pattern of lesions, in particular the striking localization of renal dysplasia to the medulla, suggested that the malformations may be the consequence of an accumulation of toxic metabolites that is not corrected by placental transfer. Other malformations included cerebral pachygyria, pulmonary hypoplasia, and facial dysmorphism. Lipid accumulation was demonstrated in the liver, heart, and renal tubular epithelium, all tissues that use fatty acids as a primary source of energy.Wilson et al. (1989) found reports of malformations in 8 of 16 cases. The anomalies included macrocephaly, large anterior fontanel, high forehead, flat nasal bridge, telecanthus, and malformed ears. Abnormalities such as hypotonia, cerebral gliosis, heterotopias, hepatomegaly, hepatic periportal necrosis, polycystic kidneys, and genital defects were considered reminiscent of the anomalies in Zellweger syndrome, but elevations of glutaric, ethylmalonic, adipic, and isovaleric acids were considered distinctive for glutaric aciduria type II. Wilson et al. (1989) described a unique ultrastructural change in the glomerular basement membrane which they suggested may represent an early stage in renal cyst formation and provide a diagnostic criterion for glutaric aciduria II when enzyme studies are unavailable.Poplawski et al. (1999) reported a family in which an unexplained neonatal death had occurred. Twelve years after the death, they retrospectively diagnosed multiple acyl-CoA-dehydrogenase deficiency by demonstrating an abnormal acyl-carnitine profile in the child's archived neonatal screening card, using tandem mass spectrometry.Angle and Burton (2008) reported 3 unrelated infants with genetically confirmed MADD who experienced sudden acute life-threatening events in the first year of life, resulting in death in 2 infants. All had been correctly diagnosed via a newborn screening protocol. Each developed cardiopulmonary arrest concurrent with metabolic stress or limited caloric intake, including vomiting, upper respiratory infection, and rotaviral diarrhea. Although only 1 patient had a documented arrhythmia, Angle and Burton (2008) suggested that an intrinsic abnormality of myocardial function due to altered energy production may have played a role. The authors emphasized the importance of aggressive nutritional management in infants with MADD.Later Onset Hypoglycemia caused by inborn errors of metabolism, including disturbances of organic-acid metabolism, usually appear during infancy or childhood. Thus, the case reported by Dusheiko et al. (1979) was unusual. A 19-year-old woman had episodic vomiting, severe hypoglycemia, and fatty infiltration of the liver. The parents were not related. One of her sisters, at age 7, developed nausea, vomiting, and a 'stale' odor to the breath, and died after 3 days in hypoglycemic coma. At age 10, a second sister was found to have jaundice, hepatomegaly, and hypoglycemia after an acute febrile illness. She recovered from that illness but died 'in her sleep' 2 years