caa a22 4500 469045256 CHVBK 20180323132822.0 cr unu---uuuuu 170328e19920301xx s 000 0 eng 10.1007/BF01799629 doi (NATIONALLICENCE)springer-10.1007/BF01799629 Persistent hypermethioninaemia with dominant inheritance [Elektronische Daten] [H. Blom, A. Davidson, J. Finkelstein, A. Luder, I. Bernardini, J. Martin, A. Tangerman, J. Trijbels, S. Mudd, S. Goodman, W. Gahl] Summary: A clinically benign form of persistent hypermethioninaemia with probable dominant inheritance was demonstrated in three generations of one family. Plasma methionine concentrations were between 87 and 475 µmol/L (normal mean 26 µmol/L; range 10-40 µmol/L); urinary methionine and homocystine concentrations were normal. Plasma homocystine, cystathionine, cystine and tyrosine were virtually normal. The concentrations in serum and urine of metabolites formed by the methionine transamination pathway were normal or moderately elevated. Methionine loading of two affected family members revealed a diminished ability to catabolize methionine, but the activities of methionine adenosyltransferase and cystathionine β-synthase were not decreased in fibroblasts from four affected family members. Fibroblast methylenetetrahydrofolate reductase activity and its inhibition byS-adenosylmethionine were also normal, indicating normal regulation ofN 5-methyltetrahydrofolate-dependent homocysteine remethylation. Serum folate concentrations were not increased. The findings in this family differ from those previously described for known defects of methionine degradation. Since the hepatic and fibroblast isoenzymes of methionine adenosyltransferase differ in their genetic control, this family's biochemical findings appear consistent with a mutation in the structural gene for the hepatic methionine adenosyltransferase isoenzyme. SSIEM and Kluwer Academic Publishers, 1992 Blom H. Section on Human Biochemical Genetics, Human Genetics Branch, National Institute of Child Health and Human Development, 20892, Bethesda, MD, USA aut Davidson A. Department of Pediatrics, University of Colorado Health Sciences Center, 4200 East Ninth Avenue, 80262, Denver, CO, USA aut Finkelstein J. Department of Veteran Affairs Medical Center, 20422, Washington, DC, USA aut Luder A. Department of Pediatrics, University of Colorado Health Sciences Center, 4200 East Ninth Avenue, 80262, Denver, CO, USA aut Bernardini I. Section on Human Biochemical Genetics, Human Genetics Branch, National Institute of Child Health and Human Development, 20892, Bethesda, MD, USA aut Martin J. Department of Veteran Affairs Medical Center, 20422, Washington, DC, USA aut Tangerman A. Division of Gastrointestinal and Liver Diseases, Department of Medicine, University Hospital Nijmegen, The Netherlands aut Trijbels J. Department of Pediatrics, University Hospital Nijmegen, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands aut Mudd S. National Institute of Mental Health, 20892, Bethesda, MD, USA aut Goodman S. Department of Pediatrics, University of Colorado Health Sciences Center, 4200 East Ninth Avenue, 80262, Denver, CO, USA aut Gahl W. Section on Human Biochemical Genetics, Human Genetics Branch, National Institute of Child Health and Human Development, 20892, Bethesda, MD, USA aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/2(1992-03-01), 188-197 0141-8955 15:2<188 1992 15 10545 https://doi.org/10.1007/BF01799629 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01799629 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Blom H. Section on Human Biochemical Genetics, Human Genetics Branch, National Institute of Child Health and Human Development, 20892, Bethesda, MD, USA aut NATIONALLICENCE 700 1- Davidson A. Department of Pediatrics, University of Colorado Health Sciences Center, 4200 East Ninth Avenue, 80262, Denver, CO, USA aut NATIONALLICENCE 700 1- Finkelstein J. Department of Veteran Affairs Medical Center, 20422, Washington, DC, USA aut NATIONALLICENCE 700 1- Luder A. Department of Pediatrics, University of Colorado Health Sciences Center, 4200 East Ninth Avenue, 80262, Denver, CO, USA aut NATIONALLICENCE 700 1- Bernardini I. Section on Human Biochemical Genetics, Human Genetics Branch, National Institute of Child Health and Human Development, 20892, Bethesda, MD, USA aut NATIONALLICENCE 700 1- Martin J. Department of Veteran Affairs Medical Center, 20422, Washington, DC, USA aut NATIONALLICENCE 700 1- Tangerman A. Division of Gastrointestinal and Liver Diseases, Department of Medicine, University Hospital Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Trijbels J. Department of Pediatrics, University Hospital Nijmegen, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Mudd S. National Institute of Mental Health, 20892, Bethesda, MD, USA aut NATIONALLICENCE 700 1- Goodman S. Department of Pediatrics, University of Colorado Health Sciences Center, 4200 East Ninth Avenue, 80262, Denver, CO, USA aut NATIONALLICENCE 700 1- Gahl W. Section on Human Biochemical Genetics, Human Genetics Branch, National Institute of Child Health and Human Development, 20892, Bethesda, MD, USA aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/2(1992-03-01), 188-197 0141-8955 15:2<188 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer