Visit Metagene.de!
Summary
INFANTILE LIVER FAILURE SYNDROME 1
INFANTILE LIVER FAILURE SYNDROME 1 ILFS1
615438
OMIM = Online Medalian Inheritance of Men
370088
5q32
rare
autosomal recessive
mutation in the LARS gene
symptoms
anemia
failure to thrive
hepatomegaly (large liver)
hypotonia
lactic acidosis
liver failure
microcephaly (<2 SD for age)
renal dysfunction, renal defects
seizures
laboratory finding
Ammonia0.000.00 increasedblood
Lactic acid 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