IEMbase 0486: GAA-related alpha-glucosidase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 486 |
| Nosology | 20.6.05.01 |
| Gene | GAA |
| External IDs | OMIM:232300; ORPHA:420429 |
| Generated mapping | MAPPED; high candidate Pompe_Disease.yaml |
| Candidate DisMech targets | Pompe_Disease.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive GAA-related alpha-glucosidase deficiency as Pompe disease / GSD IIa. Treatments are alglucosidase alpha and avalglucosidase alfa. Biochemical rows include decreased alpha-1,4-glucosidase activity in dried blood spot, fibroblast, and muscle assays; increased transaminases; increased creatine kinase; increased glycogen; increased urinary tetraglucoside; and variably increased vacuolated myocytes. Clinical rows include abnormal EEG, sensorineural hearing loss, macroglossia, orthopnea, and taurodontism.
DisMech phenotype coverage
Pompe_Disease.yaml is the correct local target. The entry models biallelic GAA
deficiency, lysosomal glycogen accumulation, autophagy dysregulation, skeletal
and respiratory myofiber injury, infantile-onset and late-onset subtypes,
hypertrophic cardiomyopathy, generalized hypotonia, proximal myopathy,
respiratory insufficiency, hepatomegaly, macroglossia, failure to thrive,
exercise intolerance, hearing impairment, decreased acid alpha-glucosidase
activity, elevated creatine kinase, urinary total glucotetrasaccharide / Hex4,
enzyme replacement therapy, cipaglucosidase alfa plus miglustat, respiratory
support, rehabilitation, diet, and genetic counseling.
Concordance and completeness
Judgement: correct Pompe disease mapping with high concordance.
The resources agree on GAA identity, recessive inheritance, acid alpha-glucosidase deficiency, lysosomal glycogen storage, CK/transaminase elevation, tetraglucoside/Hex4, macroglossia, hearing involvement, and approved enzyme replacement therapies. DisMech is more complete on the infantile/late onset split and respiratory/cardiac causal graph. IEMbase adds several specific phenotype prompts not prominent locally, including abnormal EEG, orthopnea, taurodontism, and explicit assay-compartment rows for DBS, fibroblast, and muscle.
Curation actions
- Keep the mapping to
Pompe_Disease.yaml. - If importing IEMbase prompts, verify abnormal EEG, orthopnea, taurodontism, and compartment-specific alpha-glucosidase assay rows.
- Note the Orphanet identifier difference in source metadata if relevant; disease identity is still clear through GAA/Pompe/OMIM:232300.