IEMbase 0600: PGM1-related phosphoglucomutase 1 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 600 |
| Nosology | 18.4.05.03 |
| Gene | PGM1 |
| External IDs | OMIM:614921; ORPHA:319646 |
| Generated mapping | CANDIDATE; Glycogen_Storage_Disease_Type_I.yaml |
| Candidate DisMech targets | None exact |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents PGM1-related phosphoglucomutase 1 deficiency, labelled PGM1-CDG and glycogen storage disease type XIV. The record is autosomal recessive, classified under disorders of multiple glycosylation pathways, and lists D-galactose as a pharmacological treatment.
Biochemical rows include increased creatine kinase, increased transaminases, increased ammonia, decreased glucose, increased insulin during hypoglycemia, very decreased free fatty acids and ketones during hypoglycemia, decreased antithrombin III, increased asialo-, mono-, di-, and trisialotransferrin, and decreased tetrasialotransferrin. Clinical rows include hepatopathy, episodic hypoglycemia, hyperinsulinism, dilated cardiomyopathy, muscle weakness, rhabdomyolysis, hypogonadotropic hypogonadism, short stature, growth-hormone deficiency, bifid uvula, cleft palate, first arch syndrome, thrombosis, and malignant-hyperthermia susceptibility.
DisMech phenotype coverage
Glycogen_Storage_Disease_Type_I.yaml is a false-positive generated candidate.
It models GSD I from G6PC1 or SLC37A4 defects in glucose-6-phosphate hydrolysis
or transport. It has overlapping fasting hypoglycemia and hepatomegaly language,
but it does not represent PGM1, phosphoglucomutase 1 deficiency, mixed
glycogenosis-CDG biology, transferrin glycosylation abnormalities, D-galactose
treatment, antithrombin deficiency, or the endocrine/myopathic phenotype.
PGM2L1_Deficiency.yaml is a paralog/pathway neighbor only. No exact PGM1-CDG /
GSD XIV target was identified locally.
Concordance and completeness
Judgement: true local gap; reject GSD I as exact coverage.
The generated candidate is explainable by the glycogen-storage synonym and hypoglycemia/hepatopathy overlap, but gene, enzymatic step, biomarker profile, treatment, and phenotype breadth diverge. IEMbase 0600 should remain a separate PGM1-CDG / GSD XIV work item.
Curation actions
- Create or identify an exact PGM1-CDG / glycogen storage disease type XIV target before import.
- Reject
Glycogen_Storage_Disease_Type_I.yamlas an exact mapping. - Preserve D-galactose treatment, transferrin isoform pattern, antithrombin III, nonketotic hypoglycemia, hyperinsulinism, cardiomyopathy, rhabdomyolysis, hepatopathy, endocrine, clefting/first-arch, thrombosis, and malignant-hyperthermia-susceptibility prompts.