caa a22 4500 469045027 CHVBK 20180323132821.0 cr unu---uuuuu 170328e19920901xx s 000 0 eng 10.1007/BF01800015 doi (NATIONALLICENCE)springer-10.1007/BF01800015 Carrier detection in glutaric aciduria type I using interleukin-2-dependent cultured lymphocytes [Elektronische Daten] [L. Seargeant, A. Chudley, L. Dilling, C. Mallory, J. Haworth] Summary: Cultured interleukin 2 (IL-2)-dependent leukocytes from 13 patients with glutaric aciduria type I, 12 obligate carriers, 105 family members and 31 normal controls were assayed for glutaryl-CoA dehydrogenase activity. Of the 13 affected patients, 10 (all Ojibway Indian) had residual enzyme activity (2-13% of control) and 3 patients (all non-Indian) had undetectable enzyme activity. There was partial overlap between the distribution of enzyme activity in obligate heterozygotes and in normal controls (mean values±SD: 6.29±0.94 and 10.75±2.58 nmol/h per mg protein respectively). Using an arbitrary cutoff level of <7 nmol/h per mg protein as presumptive evidence of carrier status, the observed frequency of carriers did not differ significantly from that expected from theira priori risk of carrier status. Thirteen per cent of the family members had inconclusive status (activity between 7 and 8.5 nmol/h per mg protein). The method appears suitable for carrier detection, although definitive carrier assignment awaits identification of the mutation(s) responsible for glutaric aciduria type I. SSIEM and Kluwer Academic Publishers, 1992 Seargeant L. Department of Biochemistry and Molecular Biology, University of Manitoba, Canada aut Chudley A. Department of Pediatrics and Child Health, University of Manitoba, Canada aut Dilling L. Children's Hospital, Winnipeg, Manitoba, Canada aut Mallory C. Children's Hospital, Winnipeg, Manitoba, Canada aut Haworth J. Department of Pediatrics and Child Health, University of Manitoba, Canada aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/5(1992-09-01), 733-737 0141-8955 15:5<733 1992 15 10545 https://doi.org/10.1007/BF01800015 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01800015 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Seargeant L. Department of Biochemistry and Molecular Biology, University of Manitoba, Canada aut NATIONALLICENCE 700 1- Chudley A. Department of Pediatrics and Child Health, University of Manitoba, Canada aut NATIONALLICENCE 700 1- Dilling L. Children's Hospital, Winnipeg, Manitoba, Canada aut NATIONALLICENCE 700 1- Mallory C. Children's Hospital, Winnipeg, Manitoba, Canada aut NATIONALLICENCE 700 1- Haworth J. Department of Pediatrics and Child Health, University of Manitoba, Canada aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/5(1992-09-01), 733-737 0141-8955 15:5<733 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer