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Summary
INFANTILE LIVER FAILURE SYNDROME 2 (ILFS2, RALF)
INFANTILE LIVER FAILURE SYNDROME 2 ILFS2 RALF
616483
OMIM = Online Medalian Inheritance of Men
464724
2p24.3
rare
autosomal recessive
mutation in the NBAS gene
Mutations in NBAS cause a complex disease with a wide clinical spectrum ranging from isolated RALF to a multisystemic phenotype [Staufner C et al. 2016].
symptoms
Coagulopathy/Coagulation factors
dysmorphism
edema
hepatomegaly (large liver)
hyperammonemia
hypoglycemia
infections (respiratory tract/system)
infections (severe or recurrent)
jaundice
lethargy, drowsiness, malaise or sleep disorder
liver failure
onset, childhood
onset, infancy
splenomegaly (large spleen)
vomiting
laboratory finding
Transaminases0.000.00 U/lserum
Ammonia0.000.00 +€mol/lblood
D-Glucose0.002.50 mmol/lplasma
Literature
Garc+¡a-Silva MTet al.Congenital disorder of glycosylation (CDG) type Ie. A new patientJ Inherit Metab Dis275591-6002004
Tamamori Aet al.Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiencyPediatr Res564608-6142004
Chen JSA worldwide food safety concern in 2008--melamine-contaminated infant formula in China caused urinary tract stone in 290,000 children in ChinaChin Med J (Engl)1223243-2442009
Liu S,et al.Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gammaGene5352294-2982014
Persichetti E,et al.Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gammaHum Mutat306978-9842009
Rigoli L,Di Bella CWolfram syndrome 1 and Wolfram syndrome 2Curr Opin Pediatr244512-5172012
Bonafe Let al.Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemiaAm J Hum Genet692269-2772001
Battaile KPet al.Structures of isobutyryl-CoA dehydrogenase and enzyme-product complex: comparison with isovaleryl- and short-chain acyl-CoA dehydrogenasesJ Biol Chem2791616526-342004
Koyama C,et al.A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: hyperferritinemia associated with a relatively low transferrin saturation of ironIntern Med449990-9932005