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ALL / Endocrinology
Galactosaemia
Galactosaemia
Classic galactosaemia is a rare autosomal recessive disorder due to deficiency of galactose-1-phosphate uridyltransferase (GALT). Symptoms begin when milk feeding starts because lactose is metabolised to glucose and galactose.Pathophysiology
- accumulation of galactose-1-phosphate and other toxic metabolites
- galactitol is formed by aldose reductase and accumulates in the lens, causing cataracts
- severe disease may cause phosphate depletion and hepatic/renal toxicity
Features
- presents in the neonatal period after breast or formula feeding
- vomiting, poor feeding and failure to thrive
- jaundice and hepatomegaly
- hypoglycaemia
- infantile cataracts
- renal tubular dysfunction/Fanconi syndrome
- developmental delay or intellectual disability if untreated
- increased risk of neonatal Escherichia coli sepsis
Diagnosis
- newborn blood spot screening
- urine positive for reducing substances
- confirm with red cell GALT enzyme assay and/or genetic testing
Management
- immediately exclude galactose and lactose from the diet
- use lactose-free formula; avoid breast milk and standard formula
- treat complications such as hypoglycaemia, liver dysfunction and sepsis promptly
- long-term specialist dietetic follow-up
+PassMedicine Notes
Classic galactosaemia is a rare autosomal recessive disorder due to deficiency of galactose-1-phosphate uridyltransferase (GALT). Symptoms begin when milk feeding starts because lactose is metabolised to glucose and galactose.
Pathophysiology- accumulation of galactose-1-phosphate and other toxic metabolites
- galactitol is formed by aldose reductase and accumulates in the lens, causing cataracts
- severe disease may cause phosphate depletion and hepatic/renal toxicity
- presents in the neonatal period after breast or formula feeding
- vomiting, poor feeding and failure to thrive
- jaundice and hepatomegaly
- hypoglycaemia
- infantile cataracts
- renal tubular dysfunction/Fanconi syndrome
- developmental delay or intellectual disability if untreated
- increased risk of neonatal Escherichia coli sepsis
- newborn blood spot screening
- urine positive for reducing substances
- confirm with red cell GALT enzyme assay and/or genetic testing
- immediately exclude galactose and lactose from the diet
- use lactose-free formula; avoid breast milk and standard formula
- treat complications such as hypoglycaemia, liver dysfunction and sepsis promptly
- long-term specialist dietetic follow-up
