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Summary
INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2 ILFS2
616483
OMIM = Online Medalian Inheritance of Men
2p24.3
rare
autosomal recessive
symptoms
hyperammonemia
hypoglycemia
jaundice
lethargy, drowsiness, malaise or sleep disorder
liver failure
onset, child
onset, infant
vomiting
laboratory finding
Transaminases0.000.00 increasedserumall
Ammonia0.000.00 increasedserumall
Literature
Bonafe Let al.Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemiaAm J Hum Genet692269-2772001
Tamamori Aet al.Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiencyPediatr Res564608-6142004
Battaile KPet al.Structures of isobutyryl-CoA dehydrogenase and enzyme-product complex: comparison with isovaleryl- and short-chain acyl-CoA dehydrogenasesJ Biol Chem2791616526-342004