IEMbase 0563: PHKA1-related glycogen storage disease IXd
Scope
| Field | Value |
|---|---|
| IEMbase ID | 563 |
| Nosology | 3.4.13.01 |
| Gene | PHKA1 |
| External IDs | OMIM:300559; ORPHA:715 |
| Generated mapping | CANDIDATE; Glycogen_Storage_Disease_Type_I.yaml |
| Candidate DisMech targets | No exact PHKA1/GSD IXd target found |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents PHKA1-related muscle phosphorylase kinase deficiency, with alternate labels glycogen storage disease type IXd and GSD-IXd. The record lists autosomal recessive inheritance, idiopathic subtype, treatability yes, and no treatment rows.
Biochemical rows include increased creatine kinase, decreased muscle phosphorylase kinase, low lactate rise on forearm exercise testing, increased muscle glycogen, normal ammonia rise, low-normal glucose, increased uric acid, and normal-high urine myoglobin. Clinical rows include liver adenoma, second wind, exercise intolerance, muscle cramps, muscle pain, and muscle weakness.
DisMech phenotype coverage
The generated Glycogen_Storage_Disease_Type_I.yaml candidate is a false
positive. Local GSD I covers glucose-6-phosphatase or glucose-6-phosphate
transporter disease, not muscle phosphorylase kinase alpha subunit deficiency.
Existing glycogen storage disease entries provide neighborhood context, but no
exact PHKA1/GSD IXd target was found.
Concordance and completeness
Judgement: reject Glycogen_Storage_Disease_Type_I.yaml; true PHKA1/GSD IXd
local gap.
IEMbase overlaps with nearby glycogen-storage myopathy entries on exercise intolerance, cramps, pain, weakness, CK elevation, second wind, and exercise test metabolite behavior. The gene, enzyme, tissue, and subtype identity are not covered by the generated GSD I candidate.
IEMbase provides useful seed rows for a future PHKA1/GSD IXd entry, including muscle phosphorylase kinase deficiency, muscle glycogen increase, forearm exercise lactate/ammonia pattern, myoglobin, CK, uric acid, and exercise phenotypes. The IEMbase inheritance value should be reviewed during future curation because this record's inheritance field is a key provenance-sensitive detail.
Curation actions
- Reject the generated GSD I candidate as an exact mapping.
- Add PHKA1/GSD IXd to the glycogen-storage disease curation backlog.
- Preserve IEMbase enzyme, muscle glycogen, exercise-test, second-wind, myoglobin, CK, uric-acid, and inheritance prompts for source review.