Fits, Pyridoxine, and Hyperprolinaemia Type II

Overview

Journal Arch Dis Child

Specialty Pediatrics

Date 2000 Feb 24

PMID 10685929

Citations 12

Authors

V Walker

G A Mills

S A Peters

W L Merton

Affiliations

Soon will be listed here.

Abstract

The rare inherited disorder hyperprolinaemia type II presents with fits in childhood, usually precipitated by infection. A diagnosis of hyperprolinaemia type II and vitamin B(6) deficiency was made in a well nourished child with fits. It is thought that pyridoxine deficiency was implicated in her fits and was the result of inactivation of the vitamin by the proline metabolite, pyrroline-5-carboxylate.

Citing Articles

Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II.

Merx J, van Outersterp R, Engelke U, Hendriks V, Wevers R, Huigen M Commun Biol. 2022; 5(1):997.

PMID: 36131087 PMC: 9492674. DOI: 10.1038/s42003-022-03960-2.

Inborn errors of enzymes in glutamate metabolism.

Rumping L, Vringer E, Houwen R, van Hasselt P, Jans J, Verhoeven-Duif N J Inherit Metab Dis. 2019; 43(2):200-215.

PMID: 31603991 PMC: 7078983. DOI: 10.1002/jimd.12180.

Intellectual Disability Associated With Pyridoxine-Responsive Epilepsies: The Need to Protect Cognitive Development.

Hassel B, Rogne A, Hope S Front Psychiatry. 2019; 10:116.

PMID: 30930802 PMC: 6423912. DOI: 10.3389/fpsyt.2019.00116.

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

Johnstone D, Al-Shekaili H, Tarailo-Graovac M, Wolf N, Ivy A, Demarest S Brain. 2019; 142(3):542-559.

PMID: 30668673 PMC: 6391652. DOI: 10.1093/brain/awy346.

The Alkaline Phosphatase (ALPL) Locus Is Associated with B6 Vitamer Levels in CSF and Plasma.

Loohuis L, Albersen M, de Jong S, Wu T, Luykx J, Jans J Genes (Basel). 2018; 10(1).

PMID: 30583557 PMC: 6357176. DOI: 10.3390/genes10010008.

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