caa a22 4500 46904411X CHVBK 20180323132819.0 cr unu---uuuuu 170328e19921101xx s 000 0 eng 10.1007/BF01800225 doi (NATIONALLICENCE)springer-10.1007/BF01800225 Glycogen debranching enzyme deficiency: Long-term study of serum enzyme activities and clinical features [Elektronische Daten] [R. Coleman, H. Winter, B. Wolf, Y. Chen] Summary: In glycogen storage disease type III (glycogen debranching enzyme (DE) deficiency), the activities of serum alanine aminotransferase, aspartate aminotransferase and lactate dehydrogenase may be strikingly elevated during childhood but are low during adult life. To determine the pattern of the elevated serum enzyme activities in relationship to diet, the biochemical subtype and clinical symptoms, 13 patients with DE deficiency were studied. Activities of serum aspartate and alanine transaminases, lactate dehydrogenase, and alkaline phosphatase were markedly elevated during infancy. Continued elevation of enzyme activities during childhood appeared to be related to DE deficiency in liver, but unrelated to DE deficiency in muscle. Activity elevations correlated inconsistently with diet and poorly with childhood growth rate or the presence of hypoglycaemia. The serum enzyme activities declined around puberty concomitantly with a decrease in liver size. Although periportal fibrosis and micronodular cirrhosis indicated the presence of hepatocellular damage during childhood, the decline in serum enzyme activities with age and the absence of overt hepatic dysfunction suggest that the fibrotic process may not always progress. SSIEM and Kluwer Academic Publishers, 1992 Coleman R. Department of Pediatrics, Duke University Medical Center, 27710, Durham, NC aut Winter H. Department of Pediatrics, Children's Hospital, Harvard Medical School, 02115, Boston, MA aut Wolf B. Departments of Human Genetics and Pediatrics, Medical College of Virginia, Virginia Commonwealth University, 23298, Richmond, VA, USA aut Chen Y. Department of Pediatrics, Duke University Medical Center, 27710, Durham, NC aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/6(1992-11-01), 869-881 0141-8955 15:6<869 1992 15 10545 https://doi.org/10.1007/BF01800225 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01800225 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Coleman R. Department of Pediatrics, Duke University Medical Center, 27710, Durham, NC aut NATIONALLICENCE 700 1- Winter H. Department of Pediatrics, Children's Hospital, Harvard Medical School, 02115, Boston, MA aut NATIONALLICENCE 700 1- Wolf B. Departments of Human Genetics and Pediatrics, Medical College of Virginia, Virginia Commonwealth University, 23298, Richmond, VA, USA aut NATIONALLICENCE 700 1- Chen Y. Department of Pediatrics, Duke University Medical Center, 27710, Durham, NC aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/6(1992-11-01), 869-881 0141-8955 15:6<869 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer