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Summary
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 CBAS3
613812
OMIM = Online Medalian Inheritance of Men
79302
8q12.3
very rare (<5 cases)
autosomal recessive
mutation in the CYP7B1 gene
symptoms
ataxia
cataract
cholestasis
cirrhosis or fibrosis of liver
Coagulopathy/Coagulation factors
diarrhea
failure to thrive
hepatomegaly (large liver)
hypoglycemia
jaundice
liver failure
onset, adulthood
onset, neonatal
optic atrophy
splenomegaly (large spleen)
white matter changes, abnormalities
laboratory finding
Transaminases increasedserum
Bilirubin increasedserum
Phosphatase, alkaline increasedserum
Glycerol-3-phosphate increasedplasma
3-beta-hydroxy-5-cholestenoic acid increasedurine, plasma
Vitamin E decreasedplasma
D-Glucose mmol/lplasma
MRI, brain, white matter abnormalities -
Literature
Dimmock Det al.Novel human pathological mutations. Gene symbol: ASS1. Disease: CitrullinaemiaHum Genet12623422009
Noto Det al.A case of adult onset type II citrullinemia with portal-systemic shuntJ Neurol Sci2810127-1292009
Kara Bet al.Diffusion-weighted magnetic resonance imaging findings of a patient with neonatal citrullinemia during acute episodeEur J Paediatr Neurol133280-2822009