IEMbase 0620: COASY-related coenzyme A synthase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 620 |
| Nosology | 21.5.03.01 |
| Gene | COASY |
| External IDs | OMIM:615643; ORPHA:397725 |
| Generated mapping | CANDIDATE; Neurodegeneration_With_Brain_Iron_Accumulation.yaml#BPAN |
| Candidate DisMech targets | False exact candidate; broad NBIA context only |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents COASY-related coenzyme A synthase deficiency / NBIA6 / CoPAN as an autosomal recessive disorder with unknown treatability and no treatment rows.
The biochemical/imaging signal includes decreased C16:0 and C18:0 acylcarnitines in dried blood spots, age-varying C0/C16+C18 ratio abnormalities, increased serum free carnitine, and increased brain iron in childhood/adolescence. Clinical and characteristic rows include areflexia, ataxia, bradykinesia, developmental delay, gait disturbance, intellectual disability, thin corpus callosum, basal ganglia MRI abnormalities, behavioral disorder, dystonia, axonal neuropathy, parkinsonism, and spastic paraparesis.
DisMech phenotype coverage
Neurodegeneration_With_Brain_Iron_Accumulation.yaml#BPAN is not an exact
target. BPAN is the WDR45-associated, X-linked dominant NBIA subtype, while
COASY/NBIA6 is an autosomal recessive coenzyme A biosynthesis disorder.
Local NBIA content provides useful spectrum context, and
Pantothenate_Kinase-Associated_Neurodegeneration.yaml recognizes COASY
protein-associated neurodegeneration as a PKAN differential diagnosis. Neither
file appears to model COASY/NBIA6 as its own disease or subtype with a causal
COASY gene anchor.
Concordance and completeness
Judgement: broad NBIA context only; exact COASY/NBIA6 coverage remains a local gap.
The generated BPAN candidate should be rejected as exact despite shared brain iron, basal-ganglia, movement-disorder, and developmental features.
Curation actions
- Do not map COASY/NBIA6 to BPAN.
- Consider adding COASY/NBIA6 / CoPAN as an NBIA subtype or standalone disease entry with COASY gene binding.
- Preserve brain iron, basal-ganglia MRI, dystonia/parkinsonism, neuropathy, corpus-callosum, and acylcarnitine/carnitine prompts during source review.