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Summary
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 CBAS5
616278
OMIM = Online Medalian Inheritance of Men
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1p21.3
very rare
autosomal recessive
mutation in the ABCD3 gene
symptoms
Coagulopathy/Coagulation factors
hepatomegaly (large liver)
jaundice
liver failure
onset, infancy
splenomegaly (large spleen)
laboratory finding
Transaminases U/lserum
Iron -Ág/dlserum
Trihydroxycholestanoic acid (THCA) +€mol/lplasma
Very-long-chain fatty acids plasma
Literature
Singh J,et al.Acquired Bartter syndrome following gentamicin therapyIndian J Nephrol266461-4632016