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Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.

Abstract
Classical galactosemia is an autosomal recessive disorder caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase. Undoubtedly, some of the short term complications are linked to the toxic effects of the accumulated abnormal metabolites (galactose-1-phosphate and galactitol). However, the physiopathology of neonatal liver failure remains unclear. We report the case of a 7-week-old girl who was first diagnosed with liver failure, hypoprotidaemia, ascites and generalized edemas. High citrulline (293 micromol/L), on initial plasma amino acid, suggested the diagnosis of citrin deficiency. As the citric acid cycle intermediates were non-detectable (oxoglutarate, succinate and citrate), a cataplerotic state was suspected. As a result, citrate (as an anaplerotic treatment) induced a clear improvement in her liver function. Four weeks later, this patient was switched to a galactose-free formula (as recommended in citrin deficiency with galactosemia) and her pathological status returned to normal. Citrin deficiency was later ruled out by molecular biology studies; then we reintroduced a galactose-containing formula which re-evoked rapidly vomiting, galactose aversion and hepatic cytolysis and the diagnosis of classical galactosemia was established. Our case clearly shows that cataplerosis could play a role in the pathophysiology of the neonatal liver disease observed in classical galactosemia.
AuthorsFrançois Feillet, Marc Merten, Shyue-Fang Battaglia-Hsu, Daniel Rabier, Keiko Kobayashi, Jean Straczek, Michèle Brivet, Elisabeth Favre, Jean-Louis Guéant
JournalJournal of hepatology (J Hepatol) Vol. 48 Issue 3 Pg. 517-22 (Mar 2008) ISSN: 0168-8278 [Print] Netherlands
PMID18207281 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Calcium-Binding Proteins
  • Organic Anion Transporters
  • citrin
  • UTP-Hexose-1-Phosphate Uridylyltransferase
Topics
  • Calcium-Binding Proteins (deficiency, metabolism)
  • Citric Acid Cycle (physiology)
  • Female
  • Galactosemias (complications, diagnosis, metabolism)
  • Humans
  • Infant
  • Liver Diseases (etiology, metabolism)
  • Organic Anion Transporters (deficiency, metabolism)
  • UTP-Hexose-1-Phosphate Uridylyltransferase (metabolism)

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