Visit Metagene.de!
Summary
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 CBAS2
CHOLESTASIS WITH DELTA(4)-3-OXOSTEROID 5-BETA-REDUCTASE DEFICIENCY
235555
OMIM = Online Medalian Inheritance of Men
79303
7q33
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
Phosphatase, alkaline normal-increasedserum
Cholesterol normal-decreasedserum
Albumin normal-decreasedplasma
Cholic acid decreasedplasma
Glycocholic acid decreasedplasma
7+¦, 12+¦-dihydroxy-3-oxo-4-cholenoic acid increasedplasma
7+¦-hydroxy-3-oxo-4-cholenoic acid increasedplasma
Literature
Wurm Det al.Congenital disorders of glycosylation type Ia as a cause of mirror syndromeJ Perinatol2712802-8042007
Hardre Ret al.Mono, di and tri-mannopyranosyl phosphates as mannose-1-phosphate prodrugs for potential CDG-Ia therapyBioorg Med Chem Lett171152-1552007
Leroy JGCongenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defectsPediatr Res606643-6562006
Lefeber DJet al.Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathiesAm J Hum Genet85176-862009
Haeuptle MAet al.Human RFT1 deficiency leads to a disorder of N-linked glycosylationAm J Hum Genet823600-6062008
Kranz Cet al.A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancyAm J Hum Genet803433-4402007
Denecke JKranz CHypoglycosylation due to dolichol metabolism defectsBiochim Biophys Acta002009
Higashidani Aet al.Exogenous mannose does not raise steady state mannose-6-phosphate pools of normal or N-glycosylation-deficient human fibroblastsMol Genet Metab964268-2722009