IEMbase 0189: TALDO1-related transaldolase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 189 |
| Nosology | 3.5.03.01 |
| Gene | TALDO1 |
| External IDs | OMIM:606003; ORPHA:101028 |
| Generated mapping | MAPPED; Transaldolase_Deficiency.yaml |
| Candidate DisMech targets | Transaldolase_Deficiency.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as TALDO1-related transaldolase deficiency, with TALDO as the alternate label. Treatability is marked unknown.
The biochemical rows include increased ASAT/ALAT, normal-to-increased alkaline phosphatase and gamma-GT, decreased-to-normal respiratory chain activity in muscle, increased prothrombin time, increased polyols and arabitol, markedly increased erythritol, erythronic acid, ribitol, sedoheptulose, and sedoheptulose-7-phosphate, increased mannoheptulose, perseitol, and sedoheptitol, low-to-normal albumin, normal-to-increased bilirubin and ferritin, low-to-normal glucose, and markedly decreased neonatal hemoglobin. Clinical rows include anemia, thrombocytopenia, fetal hydrops, oligohydramnios, hepatomegaly, splenomegaly, liver fibrosis or cirrhosis, progressive or acute liver failure, renal tubulopathy, nephrocalcinosis, chronic renal failure, cardiac anomalies, patent ductus arteriosus, cutis laxa, skin abnormalities, dysmorphic facial features, intrauterine growth restriction, hypotonia, intellectual disability, genital anomalies, early death, and endocrine abnormalities. No treatment rows are listed.
DisMech phenotype coverage
Transaldolase_Deficiency.yaml is the correct target. The local entry covers
biallelic TALDO1 disease, reduced transaldolase activity, nonoxidative pentose
phosphate pathway disruption, sedoheptulose-7-phosphate and polyol
accumulation, NADPH/redox and mitochondrial stress, liver fibrosis or
cirrhosis, hepatosplenomegaly, thrombocytopenia, anemia, renal disease,
tubulopathy, nephrolithiasis, hydrops, edema, dysmorphic features,
developmental delay, genital abnormalities, cardiac disease, respiratory
features, cutis laxa, urinary polyol testing, acetaminophen avoidance,
N-acetylcysteine, and liver transplantation consideration.
Concordance and completeness
Judgement: correct mapped target with high concordance.
IEMbase and DisMech agree on TALDO1 identity, pentose phosphate pathway dysfunction, sedoheptulose/polyol biomarkers, hepatic fibrosis or cirrhosis, hepatosplenomegaly, cytopenias, renal disease, hydrops, dysmorphism, developmental delay, genital anomalies, cardiac findings, and cutis laxa. IEMbase adds erythronic acid, mannoheptulose, perseitol, respiratory-chain activity, ferritin, glucose, hemoglobin patterns, intrauterine growth restriction, patent ductus arteriosus, oligohydramnios, and detailed facial features. The endocrine-sex-development direction may need review because IEMbase records hypogonadotropic hypogonadism while local coverage mentions hypergonadotropic hypogonadism.
Curation actions
- Keep this record mapped to
Transaldolase_Deficiency.yaml. - Consider adding erythronic acid, mannoheptulose, perseitol, muscle respiratory-chain activity, ferritin, glucose, and hemoglobin pattern detail.
- Review the hypogonadotropic versus hypergonadotropic hypogonadism wording before adding endocrine detail.