false
zh-CN,zh-TW,en,fr,de,ja,ko,pt,es,th,vi
Catalog
PPM - Phenylketonuria Due to Phenylalanine Hydroxy ...
Checklist
Checklist
Back to course
Pdf Summary
This document provides a checklist for healthcare professionals to use during patient visits for phenylketonuria (PKU), a condition caused by a deficiency in phenylalanine hydroxylase. The checklist is divided into three sections: A, B, and C.<br /><br />Section A is for recently diagnosed patients and includes obtaining phenylalanine and phenylalanine/tyrosine ratio tests for confirmation of diagnosis, documenting family history and genetic counseling, considering mutation analysis, and documenting the age at which the low phenylalanine diet was initiated.<br /><br />Section B is for follow-up patients and includes documenting the diagnosis, updating family history, and documenting height, weight, and head circumference for children or weight and BMI for adults.<br /><br />Section C applies to all patients, both recently diagnosed and follow-up. It includes early management strategies such as offering family peer support or support group and excluding biopterin disorders using blood or urine pterin studies and erythrocyte dihydropterin reductase measurement. Nutritional management strategies are also important and involve recommending optimal plasma phenylalanine levels and documenting levels at appropriate intervals, as well as documenting phenylalanine intake and regular diet assessment. <br /><br />The document also addresses assessing various nutritional parameters if there are concerns regarding formula consumption, dietary compliance, or growth. It suggests assessing plasma amino acids, transthyretin, transferrin, albumin, complete blood count, ferritin, 25-OH vitamin D, vitamin B12, red blood cell essential fatty acids, trace minerals, vitamin A, comprehensive metabolic panel, or folic acid.<br /><br />Pharmacologic strategies are mentioned for patients above 4 years old, including discussing sapropterin (BH4) as a treatment option. The neurocognitive and psychological outcomes section discusses developmental and neuropsychological testing, with guidelines based on the year of the patient's most recent visit.<br /><br />Lastly, educational strategies are mentioned, including discussing the effects of PKU on post-pubertal females and documenting patient/family education.
Keywords
phenylketonuria
PKU
checklist
diagnosis
genetic counseling
low phenylalanine diet
follow-up
nutritional management
plasma phenylalanine levels
pharmacologic strategies
© 2025 American College of Medical Genetics and Genomics. All rights reserved.
×