title: Predicting the phenylalanine blood concentration from urine analyses. An approach to noninvasive monitoring of patients with phenylketonuria.
abstract: The need for regular blood-drawing in the management of chronic metabolic disorders may negatively influence the compliance of patients and their parents; noninvasive analytical procedures could well alleviate this burden. Using data obtained in six adult probands with phenylketonuria, we evaluate the feasibility of noninvasive prediction of phenylalanine blood concentrations from analysis of phenylalanine and creatinine in urine. Cross-validated regression equations correct for the significant inter-individual variation of phenylalanine fractional excretion rates. With sensitive and specific enzymatic assays for phenylalanine and creatinine, the accuracy of this noninvasive procedure may also become clinically satisfactory for the purpose of self-monitoring.
authors.affiliation: Institute of Human Genetics, University of Göttingen, Göttingen. ulrich.langenbeck@gmx.net
authors.forename: U
authors.initials: U
authors.lastname: Langenbeck
authors.forename: F
authors.initials: F
authors.lastname: Baum
authors.forename: A
authors.initials: A
authors.lastname: Mench-Hoinowski
authors.forename: H
authors.initials: H
authors.lastname: Luthe
authors.forename: A W
authors.initials: AW
authors.lastname: Behbehani
mesh_terms: D000328:Adult; D000704:Analysis of Variance; D001774:Blood Chemical Analysis; D019411:Clinical Laboratory Techniques; D003404:Creatinine / Q000378:metabolism; D004032:Diet; D004569:Electroencephalography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D015233:Models, Statistical; D009154:Mutation; D010649:Phenylalanine / Q000097:blood* / Q000652:urine*; D010661:Phenylketonurias / Q000235:genetics* / Q000378:metabolism; D012044:Regression Analysis; D012680:Sensitivity and Specificity; D013997:Time Factors
chemical_list: D010649:Phenylalanine; D003404:Creatinine