IEMbase 0473: GALT-related galactose-1-phosphate uridyltransferase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 473 |
| Nosology | 3.1.01.02 |
| Gene | GALT |
| External IDs | OMIM:230400; ORPHA:79239 |
| Generated mapping | MAPPED; high candidate Galactosemia.yaml#Classic Galactosemia |
| Candidate DisMech targets | Galactosemia.yaml#Classic Galactosemia |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive GALT-related galactose-1-phosphate uridyltransferase deficiency, also called classic galactosemia or galactosemia type 1. Biochemical rows include decreased erythrocyte GALT activity, increased erythrocyte galactose-1-phosphate, increased plasma and urine galactose, increased urine galactitol, urine reducing substances, aminoaciduria, transaminase elevation, bilirubin elevation, decreased coagulation factors, urinary glucose/calcium/phosphate/protein abnormalities, and a type I sialotransferrin pattern. Clinical rows include hemolytic anemia, brain edema on MRI, E. coli sepsis, hepatocellular adenoma, hypergonadotropic hypogonadism, ovarian failure, intellectual disability, cataracts, early death, hepatomegaly, liver cirrhosis, liver failure, vomiting, and a source row labelled anorexia nervosa. IEMbase records galactose-restricted and lactose-free diet as a nutritional treatment.
DisMech phenotype coverage
Galactosemia.yaml#Classic Galactosemia is the correct local target. The local
entry explicitly models GALT deficiency in the Leloir pathway, decreased GALT
enzyme activity, galactose-1-phosphate accumulation, UDP-hexose depletion,
impaired glycosylation, galactitol accumulation, acute hepatocellular
dysfunction, cataracts, E. coli sepsis, coagulopathy, renal tubular
dysfunction, intellectual disability, chronic brain dysfunction, premature
ovarian insufficiency, and dietary lactose/galactose restriction.
Concordance and completeness
Judgement: correct GALT/classic galactosemia mapping with high concordance.
IEMbase and DisMech agree on gene, subtype, inheritance, biochemical markers, acute neonatal toxicity, dietary treatment, and long-term neurologic/gonadal complications. IEMbase adds or emphasizes several prompts that are not fully represented locally, including hemolytic anemia, brain edema on MRI, hepatocellular adenoma, urinary calcium/phosphate/protein abnormalities, and type I sialotransferrin pattern. The source label "anorexia nervosa" should be checked carefully before import because it may reflect feeding intolerance or anorexia wording rather than a psychiatric diagnosis.
Curation actions
- Keep the mapping to
Galactosemia.yaml#Classic Galactosemia. - If importing IEMbase-derived prompts, verify hemolytic anemia, brain edema, hepatocellular adenoma, urinary calcium/phosphate/protein abnormalities, type I sialotransferrin pattern, and the anorexia/anorexia-nervosa label against source evidence before adding them.