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Catalog
PPM - Classic Galactosemia
Classic Galactosemia Checklist
Classic Galactosemia Checklist
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Pdf Summary
The document is a checklist for the diagnosis, genetic counseling, and surveillance of Classic Galactosemia. It provides guidelines for healthcare professionals to ensure that necessary information is gathered and recorded during patient visits.<br /><br />For diagnosis, the checklist advises documenting newborn screening results and completing follow-up testing, including RBC GALT activity or GALT gene analysis. It also recommends regular testing of RBC galactose-1-phosphate at age-appropriate intervals.<br /><br />In terms of genetic counseling, the checklist suggests documenting family history and discussing acute and chronic phenotypes with the family. It emphasizes the importance of offering genetic counseling and DNA testing and documenting the offer. It also suggests offering support group or parental contact and documenting it.<br /><br />The surveillance section of the checklist outlines the specific information that should be recorded during clinic visits. This includes height, weight, and head circumference measurements, developmental status, cognitive testing, executive functioning testing, speech and language assessment, and annual diet assessment and management. It also recommends DEXA scans for bone mineral density from age 8-10 and regular physical examinations for neurologic abnormalities.<br /><br />The checklist also advises evaluating for hypogonadotropic hypogonadism if puberty is not evident by a certain age and taking appropriate intervention. It suggests conducting annual assessments for changes in menstruating females and providing treatment or referral as necessary.<br /><br />Overall, the document aims to ensure that healthcare professionals are thorough and comprehensive in their diagnosis, counseling, and surveillance of patients with Classic Galactosemia.
Keywords
Classic Galactosemia
diagnosis
genetic counseling
surveillance
newborn screening
RBC GALT activity
GALT gene analysis
family history
DEXA scans
hypogonadotropic hypogonadism
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