What is BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6?

very rare autosomal recessive mutation in the ACOX2 gene

Which enzymes are involved?

Peroxisomal acyl-coenzyme A oxidase 2

Disease	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6
OMIM	617308 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Peroxisomal acyl-coenzyme A oxidase 2
Gene locus	3p14.3
ICD
Summary	very rare autosomal recessive mutation in the ACOX2 gene
Laboratory findings	Cholesterol dec (serum) Dihydroxycholestanoic acid (DHCA) inc (urine) Dihydroxycholestanoic acid (DHCA) inc (serum) Trihydroxycholestanoic acid (THCA) inc (serum) Trihydroxycholestanoic acid (THCA) inc (urine) Vitamin D dec (serum)
Symptoms	ataxia blindness, visual loss, visual impairment cardiomyopathy cataract cerebellar atrophy or hypoplasia cholestasis developmental delay dysmetria encephalopathy exercise intolerance gastrointestinal dysmotility hearing defect, deafness hypoglycemia hypotonia intellectual disability/intellectual developmental disorder liver involvement or dysfunction muscle cramps muscle weakness neuropathy onset, adulthood seizures speech development, delayed, abnormal steatorrhea strokelike episodes weight loss