Inborn defects in BA synthesis: side chain shortening and conjugation

Gene Protein Clinical features Treatment Ref. Animal models
CYP27A1 CYP27A1 Children: neonatal cholestasis, diarrhea, cataracts, growth retardation
Adults: xanthomas, neuropsychiatric symptoms (ataxia, dementia)
CDCA [48, 54] [5053]
PEX Several peroxisomal proteins Liver dysfunction, neurological abnormalities, hearing and vision impairment, adrenocortical dysfunction Symptomatic or supportive therapies [56, 57] [5860]
ABCD3 PMP70 Hepatic dysfunction, hepatosplenomegaly N.D. [61] [61, 87]
AMACR AMACR Children: malabsorption of fat-soluble vitamins, coagulation disorders, cholestasis, hepatitis
Adults: sensory and motor degenerative neuropathy
CA [6366] [67]
ACOX2 ACOX2 Hypertransaminasemia and severe hepatic and neurological alterations Cholestyramine
[6972] [73, 74]
HSD17B4 DBP Hypotonia, delayed growth and psychomotor development, visual and auditory defects. Hepatomegaly, fibrosis N.D. [75] [76, 77]
SCP2 SCPx Fertility abnormalities. Brain lesions with motor disorders Phytanic acid-restricted diet [78, 79] [80]
SLC27A5 BACS No signs of liver disease N.D. [81] [82, 83]
BAAT BAAT Neonatal cholestasis. Malabsorption of fat-soluble vitamins. Rickets GCA [84, 86] [85]

ABCD3: ATP-binding cassette subfamily D member 3; ACOX2: acyl-coenzyme A (CoA) oxidase 2; AMACR: α-methyl acyl-CoA racemase; BA: bile acid; BAAT: BA CoA: amino acid N-acyl transferase; BACS: BA-CoA synthetase; CYP27A1: sterol 27-hydroxylase; DBP: D-bifunctional protein; PEX: peroxisomal biogenesis factor or peroxin; PMP70: peroxisomal membrane protein 70; SCP2: sterol carrier protein 2