PPM - Phenylketonuria Due to Phenylalanine Hydroxylase Deficiency-Description and References

Description and References

Pdf Summary

Phenylketonuria (PKU) due to phenylalanine hydroxylase (PAH) deficiency is an inherited metabolic disorder characterized by an inability to convert the amino acid phenylalanine (Phe) to tyrosine. This leads to elevated blood phenylalanine levels, which are neurotoxic and cause developmental, neurocognitive, and neurological impairments if untreated. Over 95% of PKU cases result from PAH enzyme deficiency, while about 5% involve disorders of biopterin cofactor synthesis or recycling, contributing additionally to neurotransmitter deficiencies. Effective management requires lifelong monitoring of phenylalanine levels adjusted for patient age, comprehensive developmental assessment, and exclusion of biopterin-related conditions. Treatment involves specialized metabolic care, including genetic counseling, diet and disease management, and regular laboratory testing. The module emphasizes the critical need for age-specific phenylalanine monitoring and ongoing developmental evaluations to prevent intellectual disability and other complications. Several key guidelines and research articles provide evidence-based recommendations for diagnosis, treatment, and management of PKU. Notable resources include the American College of Medical Genetics and Genomics (ACMG) guidelines, European consensus guidelines, and the PKU dietary handbook, all highlighting the importance of individualized care plans and multidisciplinary approaches. Advances in understanding the pathophysiology of PKU's impact on the brain underscore the necessity of early detection and continuous intervention to optimize neurodevelopmental outcomes. This clinical summary serves as a foundation for clinicians to deliver quality care and improve long-term prognosis for individuals affected by phenylalanine hydroxylase deficiency.

Keywords

Phenylketonuria

PKU

Phenylalanine hydroxylase deficiency

PAH deficiency

Phenylalanine metabolism

Neurotoxicity

Developmental impairment

Biopterin cofactor disorders

Genetic counseling

Dietary management