IEMbase 0487: AGL-related amylo-1,6-glucosidase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 487 |
| Nosology | 3.4.06.01 |
| Gene | AGL |
| External IDs | OMIM:232400; ORPHA:366 |
| Generated mapping | UNMAPPED; best candidate Cori_Forbes_Disease.yaml |
| Candidate DisMech targets | Cori_Forbes_Disease.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive AGL-related amylo-1,6-glucosidase debrancher deficiency as glycogen storage disease type III / Cori-Forbes disease / limit dextrinosis. Treatments are high-protein diet and uncooked cornstarch. Biochemical rows include increased ASAT/ALAT, decreased hepatic and white-blood-cell amylo-1,6-glucosidase activity, increased biotinidase, normal-to-increased creatine kinase, increased fasted plasma and urine ketones, increased liver glycogen, increased cholesterol, decreased fasting plasma glucose, normal lactate, increased triglycerides, and normal uric acid. Clinical rows include doll-like adiposity, biliary cirrhosis, cardiomyopathy, delayed tooth eruption, exercise intolerance, liver adenoma/carcinoma/fibrosis, muscle weakness, osteopenia, short stature, and taurodontism.
DisMech phenotype coverage
Cori_Forbes_Disease.yaml is the exact local target. The entry models AGL
glycogen debranching enzyme deficiency, the dual transferase and glucosidase
activities, limit-dextrin/glycogen accumulation in liver, skeletal muscle, and
cardiac muscle, GSD IIIa and IIIb subtypes, hepatomegaly, fasting ketotic
hypoglycemia, hyperlipidemia, transaminase elevation, elevated cholesterol and
triglycerides, elevated glucose tetrasaccharide, myopathy, hypertrophic
cardiomyopathy, creatine kinase, hepatic fibrosis/cirrhosis/HCC, high-protein
and uncooked cornstarch dietary management, liver transplantation, and genetic
counseling.
Concordance and completeness
Judgement: false negative generated mapping; resolve to
Cori_Forbes_Disease.yaml.
The best candidate is the correct disease despite the generated UNMAPPED status. IEMbase and DisMech agree on AGL/GSD III identity, recessive inheritance, debranching enzyme deficiency, ketotic fasting hypoglycemia with normal lactate, hepatic glycogen storage, transaminase and lipid abnormalities, muscle/cardiac involvement, liver fibrosis/tumor complications, and high-protein/cornstarch management. IEMbase adds granular prompts such as WBC amylo-1,6-glucosidase, biotinidase, delayed tooth eruption, taurodontism, osteopenia, and doll-like adiposity.
Curation actions
- Treat this as covered by
Cori_Forbes_Disease.yaml. - If importing IEMbase-derived prompts, verify WBC enzyme testing, biotinidase, delayed tooth eruption, taurodontism, osteopenia, and doll-like adiposity.
- Consider adding explicit synonym / mapping hints so future automated matching treats GSD III, Cori-Forbes disease, limit dextrinosis, and AGL debrancher deficiency as exact aliases.