[Still another cause of hypermethioninemia in children: S-adenosylmethionine synthetase deficiency]

Arch Fr Pediatr. 1977 May;34(5):416-23.
[Article in French]

Abstract

One case of hypermethioninaemia discovered on systematic neonatal screening examination is reported. This metabolic disorder was associated with growth retardation, anorexia, digestive disturbances, and a strong smell of "boiled cabbage" in urine and sweat. With a 6-year follow up, psychomotor and growth developments were excellent under a low methionine containing diet, in spite of a persistent pathological hypermethioninaemia. A deficiency in S-adenosyl-methionine synthetase and an abnormal kinetics of this enzyme were found in a liver tissue sample obtained by biopsy. Otherwise, the excretion of alpha-keto-gamma-methyl-thiobutyric acid was increased with, however, no abnormality in the metabolism of folates. Finally, the probability of an autosomal recessive transmission is discussed.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis
  • Amino Acid Metabolism, Inborn Errors / diet therapy
  • Amino Acid Metabolism, Inborn Errors / enzymology*
  • Anorexia / etiology
  • Follow-Up Studies
  • Gastrointestinal Diseases / etiology
  • Growth Disorders / etiology
  • Humans
  • Infant, Newborn
  • Infant, Newborn, Diseases / diagnosis*
  • Infant, Newborn, Diseases / enzymology
  • Male
  • Methionine / blood
  • Methionine / metabolism*
  • Methionine Adenosyltransferase / deficiency*
  • Odorants
  • Sweat
  • Transferases / deficiency*
  • Urine

Substances

  • Methionine
  • Transferases
  • Methionine Adenosyltransferase