PPM - Management of Patients with Galactosemia-Description and References

Description and References

Pdf Summary

This module provides guidance for healthcare providers managing patients with classical galactosemia, an autosomal recessive disorder caused by deficiency of the enzyme Galactose-1-Phosphate uridyltransferase (GALT). The resulting accumulation of galactose-1-phosphate leads to serious neonatal complications such as jaundice, liver dysfunction, coagulopathy, and increased risk of Gram-negative sepsis. Diagnosis relies on reduced GALT enzyme activity and DNA analysis, with genotype-phenotype correlations distinguishing classical galactosemia from variant forms and differential diagnoses like UDP-galactose epimerase deficiency.<br /><br />A positive newborn screen for GALT deficiency constitutes a medical emergency requiring immediate treatment and close monitoring, as untreated infants face high mortality risk. Lifelong management includes confirmatory testing, strict dietary control to limit galactose intake, and coordinated care by metabolic specialists. Monitoring involves regular assessment of biochemical markers (e.g., galactose-1-phosphate), growth, neurologic development, movement disorders, and cataract formation. Neuropsychological evaluations start at age one, with attention to delayed puberty and premature ovarian insufficiency (POI), especially in females. Nutritional deficiencies and bone health are also monitored through labs and periodic DXA scans.<br /><br />Despite optimal management, patients remain at risk for long-term complications including developmental delays, speech apraxia, ataxia, cognitive and executive dysfunction, osteoporosis, and POI. The module emphasizes the importance of ongoing follow-up and multidisciplinary care to address these outcomes. Resources for detailed protocols include the ACMG newborn screening algorithm and international clinical guidelines, along with comprehensive reviews such as GeneReviews. This ensures providers can implement evidence-based approaches for diagnosis, treatment, and long-term management of patients with classical galactosemia.

Keywords

classical galactosemia

GALT deficiency

newborn screening

galactose-1-phosphate

autosomal recessive disorder

dietary management

neurologic complications

premature ovarian insufficiency

metabolic specialist care

long-term monitoring