Development of Metabolic Phenotype in Phenylketonuria: Evaluation of the Blaskovics Protein Loading Test at 5 Years of Age

Background: As part of the German Collaborative Study on Phenylketonuria (PKU)/Hyperphenylalaninaemia (HPA) Study Protocol, a Blaskovics protein loading test (180 mg phenylalanine (phe) protein equivalent per kg body weight and day for 72 h) had been applied to 145 children at the age of 6 months. F...

Full description

Saved in:
Bibliographic Details
Main Authors: Burgard, P., Mönch, E., Zschocke, J., Wendel, U., Langenbeck, U.
Format: Book Chapter
Language:English
Subjects:
Kinetic Model Type
Mild Hyperphenylalaninaemia
Phenylalanine Metabolite
Phenyllactic Acid
Response Type
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Background: As part of the German Collaborative Study on Phenylketonuria (PKU)/Hyperphenylalaninaemia (HPA) Study Protocol, a Blaskovics protein loading test (180 mg phenylalanine (phe) protein equivalent per kg body weight and day for 72 h) had been applied to 145 children at the age of 6 months. For investigating possible age-related changes of metabolic phenotype, 51 of them received a 2nd loading test at 5 years of age. Methods: Besides the analysis of blood phe levels, acidic phe transamination metabolites were quantified in urine. Results: Compared to the 6-month data, the mean blood phe level 72 h after start of loading (Phe72) was found to be decreased by 7% (P = 0.06), whereas the mean urinary excretion (per 1.73 m2 body surface and day) of 2-hydroxyphenylacetic acid was increased 1.9-fold (P 
ISSN:2192-8304
2192-8312
DOI:10.1007/8904_2015_508