Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria

Publication date: Available online 12 September 2018Source: Molecular Genetics and MetabolismAuthor(s): Barbara K. Burton, Kyle Bradford Jones, Stephen Cederbaum, Fran Rohr, Susan Waisbren, Debra E. Irwin, Gilwan Kim, Joshua Lilienstein, Ignacio Alvarez, Elaina Jurecki, Harvey LevyAbstractBackgroundPhenylalanine hydroxylase (PAH) deficiency, otherwise known as phenylketonuria (PKU), is an inborn error of metabolism that requires treatment to be initiated in the newborn period and continued throughout life. Due to the challenges of treatment adherence and the resulting cumulative effects of high and labile blood phenylalanine, PKU exerts a significant burden of disease. Retrospective studies using large databases allow for unique perspectives on comorbidities associated with rare diseases. An evaluation of comorbidities across various organ systems is warranted to understand the disease burden in adult patients.ObjectivesThe aim of this insurance claim-based observational study was to assess the prevalence of comorbid conditions across various organ systems (e.g. dermatological, renal, respiratory, gastrointestinal, hematological, and others) among adult PKU patients compared with matched controls from the general population.MethodsThis retrospective, case-controlled study selected patients from United States insurance claims databases from 1998 to 2014 using International Classification of Diseases, Ninth Revision (ICD-9) codes for diagnosis of PKU. The date of first diagnosi...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research

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