Outcomes beyond phenylalanine: An international perspective

Reference Centre for Inborn Errors of Metabolism, INSERM U954, Department of Pediatrics, Children's Hospital of Nancy, Allée du Morvan, Vandoeuvre les Nancy 54500, France.
Molecular Genetics and Metabolism (Impact Factor: 2.63). 01/2010; 99 Suppl 1:S79-85. DOI: 10.1016/j.ymgme.2009.09.015
Source: PubMed


Control of blood phenylalanine (Phe) levels throughout the life of a person diagnosed with phenylketonuria (PKU) is the biochemical management strategy necessary to provide the best potential for optimal outcome. Psychosocial support mechanisms comprise the other aspects of PKU management that are necessary to overcome the hurdles of living with this chronic disease and to adhere to the rigors of its management. Additional psychosocial support may be required, in light of increasing evidence that control of blood Phe levels in PKU can still lead to subtle but measurable cognitive function deficits as well as a predisposition to certain psychiatric symptoms and disorders. An all encompassing PKU management strategy that goes beyond simply treating blood Phe levels can empower and enable people born with PKU to achieve similar life goals as those born without PKU. This review looks at PKU management strategies that go beyond treating Phe levels, specifically (1) the roles psychologists play in managing PKU from infancy through adulthood and how they help PKU families and caregivers deal with the disease and the burden of its management; (2) understanding the challenges of transitioning into adulthood as an individual with PKU and addressing unmet needs in this population; (3) how non-traditional practices can be utilized in PKU. The objective is to emphasize that management of PKU goes well beyond addressing the biochemical nature of this disease in order to achieve optimal patient outcomes.

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    • "A variety of other factors have also been identified as affecting adult patients' ability to access appropriate treatment for PKU (Figure 1).27,28,29,30,72,73,74,75,76,77,78,79,80,81,82,83,84,85,86,87,88,89,90,91,92,93,94,95,96,97,98 Psychiatric and executive function impairments such as attention and processing-speed deficits,73,77,80 behavioral and emotional problems,81 psychiatric disorders,73,81 and cognitive deficits73,81,82,83 may have an overall negative effect on the individual's quality of life. "
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    ABSTRACT: Fifty years after the implementation of universal newborn screening programs for phenylketonuria, the first disease identified through newborn screening and considered a success story of newborn screening, a cohort of adults with phenylketonuria treated from birth provides valuable information about effects of long-term treatment for inborn errors of metabolism in general, and phenylketonuria specifically. For phenylketonuria, newborn screening allows early implementation of the phenylalanine-restricted diet, eliminating the severe neurocognitive and neuromotor impairment associated with untreated phenylketonuria. However, executive function impairments and psychiatric problems are frequently reported even for those treated early and continuously with the phenylalanine-restricted diet alone. Moreover, a large percentage of adults with phenylketonuria are reported as lost to follow-up by metabolic clinics. While a group of experts identified by the National Institutes of Health convenes to update treatment guidelines for phenylketonuria, we explore individual patient, social, and economic factors preventing >70% of adult phenylketonuria patients in the United States from accessing treatment. As more conditions are identified through newborn screening, factors affecting access to treatment grow in importance, and we must continue to be vigilant in assessing and addressing factors that affect patient treatment outcomes and not just celebrate amelioration of the most severe manifestations of disease.Genet Med advance online publication 7 March 2013Genetics in Medicine (2013); doi:10.1038/gim.2013.10.
    Genetics in medicine: official journal of the American College of Medical Genetics 03/2013; 15(8). DOI:10.1038/gim.2013.10 · 7.33 Impact Factor
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    • "Currently, the metabolic control of Phe levels by a Phe restricted diet is the biochemical management strategy necessary to provide the best potential for optimum outcome [2]. The metabolic control of blood Phe levels is a challenge during catabolic states. "
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    ABSTRACT: The metabolic control of phenylalanine levels is a challenge during illness. We present the metabolic management of a 6 year old boy with classical PKU who was diagnosed with stage III intraabdominal Burkit's lymphoma and underwent surgical resection and chemotherapy. The metabolic control during chemotherapy was achieved by the use of parenteral custom made amino acid solution and pro-active adjustment of intake. From the 94 obtained plasma phenylalanine (Phe) levels, 18.4% were above our clinic's recommended upper limit (360 μmol/L, 6 mg/dL) while 52.7% of Phe levels were below the recommended lower limit (120 μmol/L, 2 mg/dL). Phe levels above recommended range were associated with low caloric/protein intake, while levels below recommended range reflected the difficulty in achieving the full prescribed Phe intake. We recommend early institution of custom made amino acid solution with maximum amino acid content and caloric intake to provide optimal phenylalanine control. Administration of phenylalanine via regular intravenous amino acid solution may assist in avoiding low Phe levels when prescribed intake is compromised due to vomiting and other disease related illnesses. Use of custom made, phenylalanine free amino acid solution proved beneficial in the management of blood phenylalanine levels in a PKU patient during chemotherapy for Burkitt lymphoma.
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