BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 (CBAS4)

Question 1

What is  BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 (CBAS4)?

Accepted Answer

very rare (3 cases)
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Gallensäuresynthesedefekt, kongenitaler, Typ 4; Alpha-Methylacyl-CoA-Racemase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 214950

Question 4

Which enzymes are involved?

Accepted Answer

Alpha-methylacyl-CoA racemase

Disease	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 (CBAS4)
Synonym	TRIHYDROXYCOPROSTANIC ACIDEMIA; COPROSTANIC ACIDEMIA; CHOLESTASIS, INTRAHEPATIC, WITH DEFECTIVE METAB OF THC ACID
OMIM	214950 OMIM = Online Mendelian Inheritance of Men
Orphanet	79095
Protein (UniProt)	Alpha-methylacyl-CoA racemase
ExPASy	5.1.99.4
Gene locus	5p13.2
ICD	K76.8
Summary	very rare (3 cases) autosomal recessive
Laboratory findings	Bilirubin inc (serum) Trihydroxycholestanoic acid (THCA) inc (urine) Trihydroxycholestanoic acid (THCA) inc (serum)
Symptoms	ascites cholestasis cirrhosis or fibrosis of liver early death growth retardation, poor growth jaundice onset, neonatal