Inborn errors of amino acid and fatty acid metabolism with hypoglycemia as a major clinical manifestation

Acta Paediatr Scand. 1989 Mar;78(2):161-70. doi: 10.1111/j.1651-2227.1989.tb11052.x.

Abstract

During the last decade it has become increasingly clear that severe hypoglycemia may be caused by specific enzymatic defects of amino acid and fatty acid metabolism. Several reports have presented hypoglycemic syndromes with reduced fatty acid transport or oxidation, decreased ketogenesis, or abnormalities of the Krebs cycle and electron transport chain. It is of particular interest that several enzymatic defects here discussed may present as Reye's syndrome. An intriguing fact is a highly variable clinical presentation, even in the presence of well-defined enzyme deficiencies. Some patients are desperately ill in the newborn period, whereas in other cases there are symptoms only during catabolic phases later in childhood. The presence of hypoglycemia may be related to low levels of acetyl CoA, with consequently reduced gluconeogenesis; alternatively the glucose-sparing effect of ketones is lost in states of reduced ketone body production. Treatment with pharmacological doses of vitamins may be attempted, depending upon the established or suspected diagnoses. With manifest hypoglycemia i.v. glucose infusion is the treatment of choice. By such means convulsions, and brain damage may be prevented.

Publication types

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

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / complications
  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / metabolism
  • Carnitine Acyltransferases / deficiency
  • Energy Metabolism
  • Fatty Acid Desaturases / deficiency
  • Fatty Acids / metabolism*
  • Humans
  • Hydroxymethylglutaryl CoA Reductases / deficiency
  • Hypoglycemia / diagnosis*
  • Hypoglycemia / etiology
  • Hypoglycemia / metabolism

Substances

  • Fatty Acids
  • Hydroxymethylglutaryl CoA Reductases
  • Fatty Acid Desaturases
  • Carnitine Acyltransferases