Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.
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.
Feillet
François
F
Centre de Référence des Maladies Héréditaires du Métabolisme et Inserm U724, CHU et Faculté de Médecine de Nancy, France. f.feillet@chu-nancy.fr
Merten
Marc
M
Battaglia-Hsu
Shyue-Fang
SF
Rabier
Daniel
D
Kobayashi
Keiko
K
Straczek
Jean
J
Brivet
Michèle
M
Favre
Elisabeth
E
Guéant
Jean-Louis
JL
D002135:Calcium-Binding Proteins / Q000172:deficiency* / Q000378:metabolism; D002952:Citric Acid Cycle / Q000502:physiology*; D005260:Female; D005693:Galactosemias / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism; D006801:Humans; D007223:Infant; D008107:Liver Diseases / Q000209:etiology / Q000378:metabolism; D027361:Organic Anion Transporters / Q000172:deficiency* / Q000378:metabolism; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000378:metabolism
D002135:Calcium-Binding Proteins; D027361:Organic Anion Transporters; C008822:citrin; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase