Prenatal diagnosis and neonatal monitoring of a fetus with glutaric aciduria type II due to electron transfer flavoprotein (β-subunit) deficiency

• Published in: Pediatric research Vol. 30; no. 5; pp. 439 - 443
• Main Authors: YAMAGUCHI, S, SHIMIZU, N, ORIL, T, FUKAO, T, SUZUKI, Y, MAEDA, K, HASHIMOTO, T, PREVIS, S. F, RINALDO, P
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott Williams & Wilkins 01.11.1991
• Subjects: Amniotic Fluid - cytology; Amniotic Fluid - metabolism; Biological and medical sciences; Electron-Transferring Flavoproteins; Female; Flavoproteins - metabolism; Glutarates - metabolism; Glutarates - urine; Humans; Infant; Infant, Newborn; Male; Medical sciences; Metabolic diseases; Metabolism, Inborn Errors - classification; Metabolism, Inborn Errors - diagnosis; Metabolism, Inborn Errors - metabolism; Pregnancy; Prenatal Diagnosis; Case study; Human; Newborn; Deficiency; Electron transfer; Metabolic diseases; Evolution; Fetus; Glutaric aciduria II; Diagnosis; Flavoprotein
• ISSN: 0031-3998; 1530-0447
• DOI: 10.1203/00006450-199111000-00009

The prenatal diagnosis of a male fetus with glutaric aciduria type II 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 immunoblot 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: 1) 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 beta-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 II.