Prenatal Diagnosis and Neonatal Monitoring of a Fetus with Glutaric Aciduria Type II Due to Electron Transfer Flavoprotein (β-Subunit) Deficiency

Abstract

ABSTRACT. The prenatal diagnosis of a male fetus with glutaric aciduria type I1 and the time course of metabolite urinary excretion, starting immediately after birth, are described. Prenatal diagnosis was undertaken at the 17th wk of gestation by irnmunoblot analysis and pulse labeling experiments of amniocytes and, retrospectively, by stable isotope dilution analysis of six metabolites in amniotic fluid. The results were as follows: I) The immunochemical analysis on cultured amniocytes showed that the fetus, as the previous index case in this family, was affected with a deficiency of the P-subunit of electron transfer flavoprotein. 2) Glutarate concentration was significantly increased in the cell-free supernatant of the amniotic fluid. In the postnatal period, most of the organic acids and acylglycines characteristic of the disorder appeared in urine within a week, although an increased excretion of hexanoylglycine was the only biochemical abnormality detectable in the first urine sample collected at 9 h after birth. Growth and development of this infant were normal during the following 6 mo of life, when he was receiving oral supplementation with L-carnitine and riboflavin. It should be underscored that transient abnormalities in routine blood tests (glutamic oxaloacetic transaminase, lactate dehydrogenase, and creatine phosphokinase) were present soon after birth, despite his asymptomatic clinical course. Early detection and aggressive treatment could be effective in such a form of glutaric aciduria type 11. (Pediatr Res 30: [439][440][441][442][443] 1991) Abbreviations GAII, glutaric aciduria type I1 ETF, electron transfer flavoprotein a-ETF, a-subunit of ETF P-ETF, P-subunit of ETF GC/MS, gas chromatography mass spectrometry GOT, glutamic oxaloacetic transaminase LDH, lactate dehydrogenase

Assessment of an electron‐impact GC‐MS method for organic acids and glycine conjugates in amniotic fluid

“…Our AF control values (Table 3) mostly agree with literature data obtained from smaller numbers of specimens. For ethylmalonate and hexanoylglycine, however, our control values di¡er from those of the one study available for these metabolites (Yamaguchi et al 1991), a paper which otherwise gives a questionable control value for isovalerylglycine, with regard to the other published values.…”

Identification of ETFB as a candidate protein that participates in the mechanoregulation of fibroblast cell number in collagen gel culture

“…ETFB is more highly expressed in liver, heart and skeletal muscle, and expression in the brain, uterus, lung, kidney and pancreas is lower (Expasy protein database, http:// www.uniprot.org/uniprot/P38117). A polymorphism in this gene correlates with glutaric aciduria IIB in humans [35]. Although the relationship with this protein is not clear, it was reported that ATP levels in hypertrophic scar tissue are higher than in atrophic white scars [36] and that hepatic fatty acid metabolism is enhanced in severe thermal injury [37].…”

Molecular study of electron transfer flavoprotein α‐subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II

“…Basically, the experiment was carried out as described [5,15]. After preincubation in methionine‐depleted MEM without FCS, fibroblasts were pulse‐labelled, and cultured for 1 h in the methionine‐depleted MEM with 10% dialyzed FCS and 100 µCi of 35 S‐methionine (400 Ci mmol −1 ).…”