BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 (CBAS5)

Question 1

What is  BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 (CBAS5)?

Accepted Answer

very rare

autosomal recessive

mutation in the ABCD3 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 616278

Question 3

Which enzymes are involved?

Accepted Answer

ATP-binding cassette sub-family D member 3

Disease	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 (CBAS5)
OMIM	616278 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	ATP-binding cassette sub-family D member 3
Gene locus	1p21.3
ICD
Summary	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)