Visit Metagene.de!
Summary
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 CBAS4
TRIHYDROXYCOPROSTANIC ACIDEMIA COPROSTANIC ACIDEMIA CHOLESTASIS, INTRAHEPATIC, WITH DEFECTIVE METAB OF THC ACID
214950
OMIM = Online Medalian Inheritance of Men
79095
5p13.2
rare
autosomal recessive
symptoms
ascites
cholestasis
cirrhosis or fibrosis of liver
early death
growth retardation
jaundice
onset, neonatal
laboratory finding
Trihydroxycoprostanic acid increasedurine
Trihydroxycoprostanic acid increasedserum
Bilirubin increasedserum
Cholesterol
Literature
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Larovere LEet al.Citrullinemia type I, classical variant. Identification of ASS-p~G390R (c.1168G>A) mutation in families of a limited geographic area of Argentina: a possible population clusterClin Biochem4201166-11682009
Klein JMet al.Transient surfactant protein B deficiency in a term infant with severe respiratory failureJ Pediatr1320244-2481998