NCC Knowledge Nugget Series: Phenylalanine Hydroxylase (PAH) Deficiency ACT Sheet-Phenylalanine Hydroxylase (PAH) Deficiency ACT Sheet

Phenylalanine Hydroxylase (PAH) Deficiency ACT Sheet

Pdf Summary

The ACT Sheet is an educational resource for medical geneticists and clinicians to assist in providing quality medical services. It emphasizes that adherence to the resource is voluntary and may not guarantee a successful outcome. The resource does not encompass all procedures and tests and clinician judgment is necessary in determining the appropriateness of specific procedures or tests. The clinician should consider the individual patient's circumstances and consider other medical and scientific information that becomes available. Intellectual property rights may also limit certain tests and procedures. The Newborn Screening ACT Sheet focuses specifically on Phenylalanine hydroxylase deficiency (PAH), which can result in elevated phenylalanine levels. This can be caused by various conditions including phenylketonuria (PKU), biopterin cofactor defects, and maternal PKU. It provides guidance for clinicians on actions to take, such as informing the family of the screening result, consulting with a pediatric metabolic specialist, evaluating the newborn, and initiating confirmatory testing and management. The diagnostic evaluation involves measuring plasma amino acids, assessing urine pterins and DHPR activity, and potentially conducting molecular genetic testing. Untreated PKU can lead to developmental delay, hyperactivity, and seizures, while untreated maternal PKU can cause birth defects in the newborn. Lifelong treatment involves dietary restriction of phenylalanine and cofactor supplementation. The ACT Sheet also provides additional resources for communicating screening results, emergency protocols, and referral to genetic clinics and testing registries.

Keywords

ACT Sheet

medical geneticists

clinicians

procedures

tests

Phenylalanine hydroxylase deficiency

PKU

maternal PKU

confirmatory testing

lifelong treatment