IEMbase 0477: ALDOB-related aldolase B deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 477 |
| Nosology | 3.1.02.03 |
| Gene | ALDOB |
| External IDs | OMIM:229600; ORPHA:469 |
| Generated mapping | MAPPED; high candidate Hereditary_Fructose_Intolerance.yaml |
| Candidate DisMech targets | Hereditary_Fructose_Intolerance.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive ALDOB-related aldolase B deficiency, also called hereditary fructose intolerance and fructose-1-phosphate aldolase deficiency. Biochemical rows include decreased hepatic fructose-1-phosphate aldolase activity, increased transaminases, type I sialotransferrin pattern, conjugated bilirubin elevation, decreased coagulation factors, low-to-normal plasma glucose, low-to-normal magnesium and phosphate, variably increased triglycerides and uric acid, and increased urinary glycerol. Clinical rows include abdominal pain, steatorrhea, failure to thrive, abnormal feeding habits, hepatomegaly, liver cirrhosis, liver failure, renal tubulopathy, and vomiting. IEMbase records fructose-, sucrose-, and sorbitol-free diet as a nutritional treatment.
DisMech phenotype coverage
Hereditary_Fructose_Intolerance.yaml is the correct local target. The local
entry explicitly models biallelic ALDOB disease, autosomal recessive
inheritance, aldolase B deficiency in liver/kidney/intestine, fructose
catabolism failure, fructose-1-phosphate accumulation with ATP depletion,
hypoglycemia, vomiting, abdominal pain, diarrhea, hepatomegaly, renal tubular
dysfunction, liver failure, steatosis/metabolic complications, and lifelong
avoidance of fructose, sucrose, and sorbitol.
Concordance and completeness
Judgement: correct ALDOB/hereditary fructose intolerance mapping with high concordance.
The resources agree on gene, inheritance, disease identity, proximal biochemical lesion, fructose-triggered metabolic toxicity, liver/kidney phenotype, gastrointestinal symptoms, and diet treatment. IEMbase adds granular prompts not fully represented locally, including type I sialotransferrin pattern, conjugated bilirubin, coagulation factors, magnesium/phosphate, triglycerides, uric acid, urinary glycerol, steatorrhea, and abnormal feeding habits.
Curation actions
- Keep the mapping to
Hereditary_Fructose_Intolerance.yaml. - If importing IEMbase-derived prompts, verify type I sialotransferrin pattern, conjugated bilirubin, coagulation-factor abnormalities, magnesium/phosphate, triglyceride and uric-acid rows, urinary glycerol, steatorrhea, and abnormal feeding habits against source evidence.