PPM - Classic Galactosemia-Description and References

Description and References

Pdf Summary

Classic Galactosemia is an autosomal recessive inborn error of metabolism caused by mutations in GALT, resulting in reduced galactose-1-phosphase uridyltransferase activity. This condition requires emergent attention and management. The learning objectives of this module are to describe the most current recommendations for the evaluation and care of a newborn with Classic Galactosemia, demonstrate awareness of the long-term effects on cognitive function, speech, onset of puberty, and bone health, and to understand the negative impact on bone health.<br /><br />Classic Galactosemia is caused by impairment in the enzyme GALT, leading to an accumulation of galactose-1-phosphate, which is toxic to the liver. It can result in neonatal jaundice, liver dysfunction, and, in severe cases, coagulopathy and sepsis. A positive newborn screen for GALT deficiency is a medical emergency, and immediate medical evaluation and a change in formula to soy-based are required. Treated newborns may have developmental disabilities, speech dyspraxia, and premature ovarian insufficiency. All patients require quality medical services from a metabolic specialist, including clinical evaluation, diagnostic confirmation, dietary counseling, preventive management, treatment, and genetic counseling. Carrier testing and prenatal diagnosis are possible with DNA analysis.<br /><br />Despite excellent dietary control, patients are still at risk for cognitive and executive difficulties, delayed puberty, decreased bone mineralization, and premature ovarian failure.<br /><br />References for further reading are provided, including act sheets and algorithms, GeneReviews®, an international clinical guideline, and articles on Classic Galactosemia.

Keywords

Classic Galactosemia

autosomal recessive

GALT mutations

galactose-1-phosphate uridyltransferase

emergent attention

cognitive function

speech dyspraxia

premature ovarian insufficiency

metabolic specialist

bone health