Pediatria pre prax 3/2025
Classic galactosemia – a rare but serious hereditary disorder of galactose metabolism
Galactosemia is a rare autosomal recessive disorder caused by impaired galactose metabolism due to galactose 1-phosphate uridyltransferase (GALT) deficiency. It typically manifests in neonates as prolonged jaundice, hepatomegaly, hypotonia, sepsis, or encephalopathy. Diagnosis requires prompt biochemical and genetic testing. Treatment consists of a lifelong galactose-free diet; however, long-term complications such as speech delays, cognitive deficits, and infertility often persist. We also discuss recent therapeutic research and the need for including galactosemia in Slovakia’s newborn screening program.
Keywords: classical galactosemia, GALT deficiency, Leloir pathway, autosomal recessive inheritance, newborn screening, pharmacological chaperones
