Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency
| Autor: | Daniel Rabier, J. Straczek, François Feillet, Michèle Brivet, Jean-Louis Guéant, Elisabeth Favre, Keiko Kobayashi, Marc Merten, Shyue-Fang Battaglia-Hsu |
|---|---|
| Rok vydání: | 2007 |
| Předmět: |
Galactosemias
medicine.medical_specialty Hereditary fructose intolerance Citric Acid Cycle Organic Anion Transporters Liver disease chemistry.chemical_compound Internal medicine Ascites medicine Citrulline Humans UTP-Hexose-1-Phosphate Uridylyltransferase Hepatology biology Liver Diseases Galactosemia Galactitol Calcium-Binding Proteins Infant medicine.disease Endocrinology Citrin chemistry biology.protein Female Liver function medicine.symptom |
| Zdroj: | Journal of hepatology. 48(3) |
| ISSN: | 0168-8278 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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