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IEMbase 0659: ABCD3-related congenital bile acid synthesis defect

Scope

Field Value
IEMbase ID 659
Nosology 14.8.08.01
Nosology code IEM1187
Gene ABCD3
External IDs OMIM:616278
Generated mapping MAPPED to Inborn_Disorder_of_Bile_Acid_Synthesis.yaml
Candidate DisMech targets Broad bile-acid umbrella only; no exact ABCD3 subtype found
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents autosomal recessive ABCD3-related congenital bile acid synthesis defect, also labeled peroxisomal membrane transporter 70-kD defect or PMP70.

Biochemical rows include increased plasma THCA, increased plasma C27 bile acid, increased ASAT/ALAT and transaminase, low serum iron, and normal serum pristanic acid, phytanic acid, and very-long-chain fatty acids. Clinical rows include optional neonatal/infantile jaundice, infantile/childhood liver failure, liver fibrosis, anemia, and hepatosplenomegaly.

DisMech phenotype coverage

Inborn_Disorder_of_Bile_Acid_Synthesis.yaml is a valid broad family context for congenital bile acid synthesis defects. It covers hepatocyte bile-acid synthetic enzyme defects, accumulation of hepatotoxic C27 bile-acid intermediates, cholestasis, progressive liver injury, fat-soluble vitamin malabsorption, steatorrhea, failure to thrive, and bile-acid replacement treatment. It explicitly describes C27 bile-acid intermediate toxicity.

However, the local file does not list ABCD3/PMP70 as a subtype or gene. It is centered on HSD3B7, AKR1D1, CYP7B1, AMACR, CYP27A1, BAAT, and related canonical bile-acid synthesis/conjugation defects. Peroxisome_Biogenesis_Disorder.yaml also provides broad peroxisomal hepatotoxic metabolite context, but it is not an ABCD3 disease target.

Concordance and completeness

Judgement: broad family-level coverage only; exact ABCD3/PMP70 coverage remains a local gap.

The generated mapped target is useful but overstates completeness if treated as exact. IEMbase's ABCD3 row has a specific peroxisomal transporter mechanism and a diagnostic pattern of elevated THCA/C27 bile acids with normal phytanic, pristanic, and very-long-chain fatty acids that is not captured as a subtype in the DisMech bile-acid umbrella.

Curation actions

  • Keep Inborn_Disorder_of_Bile_Acid_Synthesis.yaml as broad context, not exact ABCD3 subtype coverage.
  • Consider adding an ABCD3/PMP70 subtype or separate disease entry after source review.
  • Preserve THCA, C27 bile acid, transaminases, low iron, normal pristanic/ phytanic/VLCFA, jaundice, liver failure, liver fibrosis, anemia, and hepatosplenomegaly prompts.