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

J Inherit Metab Dis. 1992;15(6):869-81. doi: 10.1007/BF01800225.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Alanine Transaminase / blood
  • Alkaline Phosphatase / blood
  • Aspartate Aminotransferases / blood
  • Child
  • Child, Preschool
  • Diet
  • Female
  • Glycogen Debranching Enzyme System / blood
  • Glycogen Debranching Enzyme System / deficiency*
  • Glycogen Storage Disease Type III / complications
  • Glycogen Storage Disease Type III / enzymology*
  • Glycogen Storage Disease Type III / physiopathology
  • Growth / physiology
  • Humans
  • L-Lactate Dehydrogenase / blood
  • Liver / enzymology
  • Liver Cirrhosis / etiology
  • Liver Cirrhosis / pathology
  • Male
  • Middle Aged
  • Muscles / enzymology

Substances

  • Glycogen Debranching Enzyme System
  • L-Lactate Dehydrogenase
  • Aspartate Aminotransferases
  • Alanine Transaminase
  • Alkaline Phosphatase