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High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
M-Y Lan, M-H Fu, Y-F Liu, C-C Huang, Y-Y Chang, J-S Liu, C-H Peng, S-S Chen,
Lipid storage myopathies (LSMs) are characterized pathologically by the accumulation of lipid droplets in muscle fibers due to impaired cellular lipid metabolism. The purpose of this study was to determine etiologies and genetic mutations associated with LSMs in ethnic Han Taiwanese. The usefulness of the blood acylcarnitine (AC) profile for diagnosing LSMs in adult patients was also investigated. Nine patients were diagnosed with late-onset LSMs following a review of muscle biopsies and medical records and were recruited retrospectively. Genetic studies were performed to detect mutations in the SLC22A5 for primary carnitine deficiency, PNPLA2 for neutral lipid storage disease with myopathy, ABHD5 for neutral lipid storage disease with ichthyosis, ETFDH for multiple acyl-CoA dehydrogenation deficiency (MADD), and CPT2 for carnitine palmitoyltransferase II deficiency. Blood AC levels were measured by tandem mass spectrometry. The mutation c.250G>A in ETFDH was detected in seven (78%) patients, six of whom were homozygous for the variant. Patients with ETFDH mutations had elevated blood levels of ACs ranging from C8 to C16 species, a pattern consistent with MADD. ETFDH c.250G>A mutation is common in Taiwanese patients with late-onset LSMs. The blood AC profile is a sensitive biochemical marker for diagnosing MADD arising from ETFDH mutations in adults.
Clinical genetics - Dec 2010
Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy.
G N Wilson, J P de Chadarévian, P Kaplan, J P Loehr, F E Frerman, S I Goodman,
A male infant with glutaric aciduria II secondary to electron transfer flavoprotein: ubiquinone oxidoreductase deficiency is compared to previously reported cases of glutaric aciduria II. A common pattern of anomalies in patients with malformations (8/16) includes macrocephaly, large anterior fontanelle, 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 in glutaric aciduria II are reminiscent of those in Zellweger syndrome, whereas elevations of glutaric, ethylmalonic, adipic, and isovaleric acids are quite distinctive. A unique ultrastructural alteration of the glomerular basement membrane was observed in the proposita. This manifestation may represent an early stage in renal cyst formation and provide a diagnostic criterion for glutaric aciduria II when enzyme studies are unavailable.
American journal of medical genetics - Mar 1989
Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II.
Brad Angle, Barbara K Burton,
Glutaric acidemia type II (GAII) is an inborn error of metabolism caused by defects in electron transport flavoprotein (ETF) or ETF-ubiquinone oxidoreductase (ETF-QO) and typically presents with hypo- or nonketotic hypoglycemia and metabolic acidosis. The most severe forms present in early infancy and are associated with a high mortality rate. The disorder can now be detected by expanded newborn screening using tandem mass spectrometry (MS/MS), providing the opportunity for diagnosis and treatment in asymptomatic infants. We report here three infants who, despite diagnosis and treatment in the neonatal period, experienced either unexpected sudden death or an acute life-threatening event (ALTE) during the first year of life. The possible etiologies of these events and the potential impact of expanded newborn screening on the long-term outcome of GAII are discussed.
Molecular genetics and metabolism - Jan 2008