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Summary
INFANTILE LIVER FAILURE SYNDROME 1
INFANTILE LIVER FAILURE SYNDROME 1 ILFS1
615438
OMIM = Online Medalian Inheritance of Men
370088
5q32
rare
autosomal recessive
symptoms
anemia
failure to thrive
hepatomegaly (large liver)
hypotonia
lactic acidosis
liver failure
microcephaly
renal dysfunction
seizures
laboratory finding
Ammonia0.000.00 increasedblood
Lactate increasedblood
MRI, brain, abnormalities -
Literature
Tazawa Yet al.Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patientsMol Genet Metab830213-2192004
Schenk Bet al.MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type IfJ Clin Invest11161687-16952003
Hachisu Met al.Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhoodEur J Pediatr1642109-1102005