go back

BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 (CBAS5)

BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 (CBAS5)
616278
OMIM = Online Mendelian Inheritance of Men
---
ATP-binding cassette sub-family D member 3
1p21.3
very rare
autosomal recessive
mutation in the ABCD3 gene
Laboratory findings    Iron dec (serum)
    Transaminases (ASAT/ALAT) inc (serum)
    Trihydroxycholestanoic acid (THCA) inc (plasma)
    Very-long-chain fatty acids inc (plasma)
Symptoms    Coagulopathy/Coagulation factors
    hepatomegaly (large liver)
    jaundice
    liver failure
    onset, infancy
    splenomegaly (large spleen)