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Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features.

Publication ,  Journal Article
Coleman, RA; Winter, HS; Wolf, B; Chen, YT
Published in: J Inherit Metab Dis
1992

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.

Duke Scholars

Published In

J Inherit Metab Dis

DOI

ISSN

0141-8955

Publication Date

1992

Volume

15

Issue

6

Start / End Page

869 / 881

Location

United States

Related Subject Headings

  • Muscles
  • Middle Aged
  • Male
  • Liver Cirrhosis
  • Liver
  • L-Lactate Dehydrogenase
  • Humans
  • Growth
  • Glycogen Storage Disease Type III
  • Glycogen Debranching Enzyme System
 

Citation

APA
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ICMJE
MLA
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Coleman, R. A., Winter, H. S., Wolf, B., & Chen, Y. T. (1992). Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features. J Inherit Metab Dis, 15(6), 869–881. https://doi.org/10.1007/BF01800225
Coleman, R. A., H. S. Winter, B. Wolf, and Y. T. Chen. “Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features.J Inherit Metab Dis 15, no. 6 (1992): 869–81. https://doi.org/10.1007/BF01800225.
Coleman RA, Winter HS, Wolf B, Chen YT. Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features. J Inherit Metab Dis. 1992;15(6):869–81.
Coleman, R. A., et al. “Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features.J Inherit Metab Dis, vol. 15, no. 6, 1992, pp. 869–81. Pubmed, doi:10.1007/BF01800225.
Coleman RA, Winter HS, Wolf B, Chen YT. Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features. J Inherit Metab Dis. 1992;15(6):869–881.
Journal cover image

Published In

J Inherit Metab Dis

DOI

ISSN

0141-8955

Publication Date

1992

Volume

15

Issue

6

Start / End Page

869 / 881

Location

United States

Related Subject Headings

  • Muscles
  • Middle Aged
  • Male
  • Liver Cirrhosis
  • Liver
  • L-Lactate Dehydrogenase
  • Humans
  • Growth
  • Glycogen Storage Disease Type III
  • Glycogen Debranching Enzyme System