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Summary
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 CBAS1
3-BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE DEFICIENCY
607765
OMIM = Online Medalian Inheritance of Men
79301
16p11.2
rare
autosomal recessive
symptoms
cholestasis
cirrhosis or fibrosis of liver
diarrhea
failure to thrive
hepatomegaly (large liver)
jaundice
liver failure
onset, neonatal
splenomegaly (large spleen)
laboratory finding
Bilirubin increasedserum
Cholesterol decreasedserum
Literature
Mutoh Ket al.Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvateJ Inherit Metab Dis002008
Shanti Bet al.Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiencyJ Inherit Metab Dis002009
Komatsu Met al.Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver diseaseJ Hepatol495810-8202008
Fiermonte GetAn adult with type 2 citrullinemia presenting in EuropeN Engl J Med35813280-2822008
Freeze HHTowards a therapy for phosphomannomutase 2 defeciency, the defect in CDG-Ia patientsBiochim Biophys Acta002009
Ikeda SAdult-onset citrullinemiaBrain Nerve59159-662007