PPM - Management of Patients with Galactosemia-Checklist

Checklist

Pdf Summary

The August 2025 guidelines for managing patients with galactosemia emphasize comprehensive evaluation, diagnosis, and lifelong care. Initial steps include obtaining detailed medical, developmental, and three-generation family histories, alongside documenting newborn screening results. Physical exams should assess growth and neurological status, monitoring for issues like ataxia and tremor starting at age two. Diagnosis is confirmed through quantitative RBC galactose-1-phosphate (Gal-1-P) levels, GALT enzyme activity, and genetic testing, with classification into classical or variant forms. Treatment begins immediately with non-lactose formulas even before diagnostic confirmation. Lifelong dietary management excludes lactose and galactose, permitting minimal-galactose foods such as certain fruits, vegetables, legumes, mature cheeses, and soy products. Regular monitoring includes RBC Gal-1-P at clinic visits, annual calcium, phosphorus, and vitamin D levels with supplementation as needed, and bone density assessment by age 10 using DXA scans, with recommendations for physical activity. Neurodevelopmental and cognitive assessments including neuropsychological testing are advised every 1-3 years from age one, with early intervention for delays. Speech, language, behavioral, emotional, and social development should be regularly screened starting in infancy and continuing into adulthood. Females with delayed puberty or irregular menses should be evaluated for primary ovarian insufficiency (POI) and offered hormonal and fertility counseling. Ophthalmologic evaluations are warranted, especially if cataracts are present or dietary adherence is poor. Genetic counseling is recommended for recurrence risk and testing of at-risk relatives. Additionally, patients and families should be connected with support resources such as the Galactosemia Foundation. This checklist aids clinicians in providing standardized, holistic care to optimize outcomes for individuals with galactosemia.

Keywords

galactosemia

August 2025 guidelines

comprehensive evaluation

diagnosis

lifelong care

RBC galactose-1-phosphate

GALT enzyme activity

non-lactose formula

dietary management

genetic counseling