Acute and chronic pancreatitis in patients with inborn errors of metabolism

Pancreatology. 2001;1(5):448-56. doi: 10.1159/000055846.

Abstract

Acute and chronic recurrent pancreatitis have been reported in patients with a variety of inborn errors of metabolism. Among these are hyperlipidaemias, various disorders of branched-chain amino acid degradation, homocystinuria, haemolytic disorders, acute intermittent porphyria and several amino acid transporter defects. Some of these disease entities are exceedingly rare. In most of these disorders, pancreatitis is not very common and, with the exception of lipoprotein lipase and apolipoprotein C-II deficiency, is neither the leading nor the clinically most distressing manifestation of the underlying metabolic defect. The majority of these syndromes are, however, inherited, and often entire kindreds are carriers of well-defined germline mutations that can, to varying degrees, be associated with pancreatitis. We have reviewed the clinical, biochemical and genetic characteristics of those inborn errors of metabolism because interesting information can be gained from the in regard to the pathophysiology of pancreatitis and because they need to be distinguished from other hereditary causes of the disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Acute Disease
  • Chronic Disease
  • Enzymes / genetics
  • Humans
  • Hyperlipidemias / complications
  • Hyperlipidemias / genetics
  • Lipid Metabolism, Inborn Errors / complications
  • Metabolism, Inborn Errors / complications*
  • Metabolism, Inborn Errors / genetics
  • Pancreatitis / etiology*
  • Pancreatitis / genetics

Substances

  • Enzymes