Short term dietary interventions in children and adolescens with treated phenylketonuria: effects on neuropsychological outcome

S.C.J. Huijbregts, L.M.J. de Sonneville, R. Licht, F.J. van Spronsen, J.A. Sergeant

Research output: Contribution to JournalArticleAcademic

Abstract

Defects of lysine metabolism are rare, but hyperlysinemia is a concomitant of many inborn errors of metabolism, including urea cycle abnormalities, pyruvate carboxylase deficiency and L-2-hydroxyglutaric aciduria. We have hypothesized that mitochondrial lysine degradation is regulated by bioavailability of 2-oxoglutarate in the same compartment, and our studies in physiologic fluid derived from patients with the above described disorders supports our hypothsis. Our data further suggest that patients with isolated L-2-hydroxyglutaric aciduria may have a defect in 2-ketoglutarate metabolism. The current report summarizes our studies.
Original languageEnglish
Pages (from-to)1-12
JournalJournal of Inherited Metabolic Disease
Volume25
DOIs
Publication statusPublished - 2002

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