caa a22 4500 46793357X CHVBK 20180406152950.0 cr unu---uuuuu 170328e20060801xx s 000 0 eng 10.1007/s10545-006-0240-0 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0240-0 S -Adenosylhomocysteine hydrolase deficiency in a 26-year-old man [Elektronische Daten] [N. Buist, B. Glenn, O. Vugrek, C. Wagner, S. Stabler, R. Allen, I. Pogribny, A. Schulze, S. Zeisel, I. Barić, S. Mudd] This paper reports the third proven human case of deficient S-adenosylhomocysteine (AdoHcy) hydrolase activity. The patient is similar to the only two previously reported cases with this disorder in having severe myopathy, developmental delay, elevated serum creatine kinase (CK) concentrations, and hypermethioninaemia. Although he has been followed from infancy, the basic enzyme deficiency was established only at age 26 years. The diagnosis was based on markedly elevated plasma concentrations of both AdoHcy and S-adenosylmethionine, some 20% of the mean control activity of AdoHcy hydrolase activity in haemolysates of his red-blood cells, and two missense mutations in his gene encoding AdoHcy hydrolase. He had low values of erythrocyte phosphatidylcholine and plasma free choline and marginally elevated excretion of guanidinoacetate, suggesting that the elevated AdoHcy may have been inhibiting methylation of phosphatidylethanolamine and guanidinoacetate. His leukocyte DNA was globally more methylated than the DNA's of his parents or the mean extent of methylation measured in age-matched control subjects. SSIEM and Springer, 2006 Buist N. Departments of Pediatrics and Medical Genetics, Oregon Health & Science University, 8510 S.W. White Pine Lane, 97225, Portland, OR, USA aut Glenn B. Department of Biochemistry, Vanderbilt University and Department of Veterans Affairs Medical Center, Nashville, Tennessee, USA aut Vugrek O. Department of Molecular Medicine, Ruder Bošković Institute, Zagreb, Croatia aut Wagner C. Department of Biochemistry, Vanderbilt University and Department of Veterans Affairs Medical Center, Nashville, Tennessee, USA aut Stabler S. Division of Hematology, University of Colorado Health Sciences Center, Denver, Colorado, USA aut Allen R. Division of Hematology, University of Colorado Health Sciences Center, Denver, Colorado, USA aut Pogribny I. Division of Biochemical Toxicology, National Center for Toxicological Research, Jefferson, Arizona, USA aut Schulze A. University Children's Hospital, Heidelberg, Germany aut Zeisel S. Department of Nutrition, School of Public Health and School of Medicine, University of North Carolina, Chapel Hill, North Carolina, USA aut Barić I. Department of Pediatrics, University Hospital Center and School of Medicine, Zagreb, Croatia aut Mudd S. Laboratory of Molecular Biology, National Institute of Mental Health, Bethesda, Maryland, USA aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 538-545 0141-8955 29:4<538 2006 29 10545 https://doi.org/10.1007/s10545-006-0240-0 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0240-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Buist N. Departments of Pediatrics and Medical Genetics, Oregon Health & Science University, 8510 S.W. White Pine Lane, 97225, Portland, OR, USA aut NATIONALLICENCE 700 1- Glenn B. Department of Biochemistry, Vanderbilt University and Department of Veterans Affairs Medical Center, Nashville, Tennessee, USA aut NATIONALLICENCE 700 1- Vugrek O. Department of Molecular Medicine, Ruder Bošković Institute, Zagreb, Croatia aut NATIONALLICENCE 700 1- Wagner C. Department of Biochemistry, Vanderbilt University and Department of Veterans Affairs Medical Center, Nashville, Tennessee, USA aut NATIONALLICENCE 700 1- Stabler S. Division of Hematology, University of Colorado Health Sciences Center, Denver, Colorado, USA aut NATIONALLICENCE 700 1- Allen R. Division of Hematology, University of Colorado Health Sciences Center, Denver, Colorado, USA aut NATIONALLICENCE 700 1- Pogribny I. Division of Biochemical Toxicology, National Center for Toxicological Research, Jefferson, Arizona, USA aut NATIONALLICENCE 700 1- Schulze A. University Children's Hospital, Heidelberg, Germany aut NATIONALLICENCE 700 1- Zeisel S. Department of Nutrition, School of Public Health and School of Medicine, University of North Carolina, Chapel Hill, North Carolina, USA aut NATIONALLICENCE 700 1- Barić I. Department of Pediatrics, University Hospital Center and School of Medicine, Zagreb, Croatia aut NATIONALLICENCE 700 1- Mudd S. Laboratory of Molecular Biology, National Institute of Mental Health, Bethesda, Maryland, USA aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 538-545 0141-8955 29:4<538 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer