IEMbase 0184: SLC27A5-related bile acid-CoA ligase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 184 |
| Nosology | 14.8.09.01 |
| Gene | SLC27A5 |
| External IDs | OMIM:603314; ORPHA:276066 |
| Generated mapping | UNMAPPED; best candidate Inborn_Disorder_of_Bile_Acid_Synthesis.yaml#Bile acid conjugation defect 1 |
| Candidate DisMech targets | Partial umbrella only; no valid SLC27A5 subtype |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as SLC27A5-related bile acid-CoA ligase deficiency, with BA CoA LD as the alternate label. Treatability is marked unknown.
The biochemical rows include increased unamidated bile acids by negative-mode ESI-MS, including ions at m/z 391, 407, 471, 487, 567, and 583, positive SLC27A5 sequencing, normal neonatal gamma-GT, normal-to-increased transaminases, and normal-to-increased conjugated bilirubin. Clinical rows include variable neonatal cholestasis, bridging fibrosis, and jaundice. The treatment row lists ursodeoxycholic acid with low evidence.
DisMech phenotype coverage
Inborn_Disorder_of_Bile_Acid_Synthesis.yaml has relevant group-level context:
its description and enzyme-block coverage mention final bile acid
amidation/conjugation steps involving BAAT and SLC27A5. However, the explicit
Bile acid conjugation defect 1 subtype is BAAT-related and should not be used
as a direct SLC27A5 subtype mapping.
Concordance and completeness
Judgement: partial umbrella coverage, but no valid local SLC27A5 subtype.
The local bile acid synthesis/conjugation file is mechanistically close enough to preserve as context, but the generated best candidate is not equivalent to SLC27A5-related bile acid-CoA ligase deficiency. IEMbase provides a concise SLC27A5 disease profile: unamidated bile acids, normal gamma-GT cholestasis, bridging fibrosis, jaundice, and possible ursodeoxycholic acid use.
Curation actions
- Do not resolve this record directly to the BAAT-specific conjugation defect 1 subtype.
- Add a future SLC27A5-related bile acid-CoA ligase deficiency subtype under the bile acid synthesis/conjugation disease group if subtype anchors are supported.
- Seed that future subtype with unamidated bile acid ESI-MS markers, neonatal cholestasis, bridging fibrosis, jaundice, and ursodeoxycholic acid context.