Abstract
Abstract Since neonatal screening and early nutritional treatment began, it has been possible to reverse the neurological damage that phenylketonuria (PKU) causes. Scientific evidence gathered over more than 50 years on the monitoring of individuals with PKU indicates that a phenylalanine level of about 6 mg/dL (360 µmol/L) is ideal and points to the necessity of starting a long-term phenylalanine-restricted diet in which blood phenylalanine level should stay between 2 and 6 mg/dL (120-360 µmol/L). This article aims to establish the general basis for proper monitoring of people with PKU and provide a useful tool for clinicians overseeing treatment. We hope to establish similar criteria throughout Latin America and create a uniform protocol in order to have comparative monitoring results for the region.
Highlights
Phenylketonuria (PKU; OMIM 261600) is caused by a defect in the enzyme phenylalanine (PHE) hydroxylase, which is responsible for transforming PHE to tyrosine (TYR)
The Medical Research Council has established that any child with a PHE level of 6 mg/dL (360 mmol/L), normal or decreased TYR, and receiving a normal diet should start a PHE-restricted diet in combination with protein-free PHE substitutes, minerals and essential fatty acids supplementation, and special foods low in protein
Certain special formulas generate high rejection in patients, due to low palatability. This has the consequence that patients do not consume 100% of the nutritional indication given as a special formula
Summary
Phenylketonuria (PKU; OMIM 261600) is caused by a defect in the enzyme phenylalanine (PHE) hydroxylase, which is responsible for transforming PHE to tyrosine (TYR). PHE restriction is used as a treatment for PKU in order to prevent the neurological sequelae that this disease causes. The Medical Research Council has established that any child with a PHE level of 6 mg/dL (360 mmol/L), normal or decreased TYR, and receiving a normal diet should start a PHE-restricted diet in combination with protein-free PHE substitutes, minerals and essential fatty acids supplementation, and special foods low in protein. Optimal treatment requires diagnosis to be done as soon as possible, ideally in the second week of life (before 1 month of life), strict monitoring throughout life and maintaining a PHE-restricted diet. Good metabolic control means maintaining blood levels between 2 and 6 mg/dL (120-360 mmol/L) throughout life.[1,2,3,4,5,6,7]
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