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PPM - Phenylketonuria Due to Phenylalanine Hydroxy ...
Introduction and References
Introduction and References
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Pdf Summary
Phenylketonuria (PKU) is a genetic disorder that affects the metabolism of the amino acid phenylalanine. This disorder is caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH), which results in elevated levels of phenylalanine in the blood. If left untreated, PKU can lead to intellectual disability. In some cases, the PAH enzyme dysfunction may be due to abnormalities in the synthesis or recycling of a cofactor called biopterin, which can result in additional neurological symptoms.<br /><br />Patients with PKU require ongoing care from a metabolic specialist, who can provide diagnostic confirmation, clinical evaluation, laboratory testing, diet and disease management, and genetic counseling. Treatment for PKU involves closely monitoring and restricting the amount of phenylalanine in the diet. This is usually achieved through a specialized low-phenylalanine diet, which may include the use of low-protein medical foods. Regular monitoring of blood phenylalanine levels is essential to ensure that these levels are maintained within a safe range.<br /><br />Several guidelines and resources are available to assist healthcare professionals in the diagnosis and management of PKU. The Genetics in Medicine publication by Vockley et al. provides comprehensive guidelines for the diagnosis and management of phenylalanine hydroxylase deficiency, while the National Institutes of Health Consensus Development Conference Statement offers guidance on screening and management of PKU. The American College of Medical Genetics and Genomics (ACMG) also provides a variety of resources, including ACT sheets and algorithms, to aid in the practice of medical genetics.<br /><br />In summary, PKU is a genetic disorder characterized by a deficiency of the enzyme phenylalanine hydroxylase, leading to elevated blood levels of phenylalanine. Ongoing care from a metabolic specialist is necessary for the diagnosis, management, and genetic counseling of patients with PKU. Various guidelines and resources are available to support healthcare professionals in providing the best possible care for individuals with this condition.
Keywords
Phenylketonuria
PKU
genetic disorder
phenylalanine metabolism
phenylalanine hydroxylase deficiency
elevated phenylalanine levels
intellectual disability
biopterin abnormalities
metabolic specialist
low-phenylalanine diet
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