Literature DB >> 10685929

Fits, pyridoxine, and hyperprolinaemia type II.

V Walker1, G A Mills, S A Peters, W L Merton.   

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.

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Year:  2000        PMID： 10685929      PMCID： PMC1718242          DOI： 10.1136/adc.82.3.236

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  4 in total

1.  Hydroxykynureninuria.

Authors:  G M Komrower; R Westall
Journal:  Am J Dis Child       Date:  1967-01

2.  Pyridoxine-dependent epilepsy: EEG investigations and long-term follow-up.

Authors:  M A Mikati; E Trevathan; K S Krishnamoorthy; C T Lombroso
Journal:  Electroencephalogr Clin Neurophysiol       Date:  1991-03

3.  Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia.

Authors:  M T Geraghty; D Vaughn; A J Nicholson; W W Lin; G Jimenez-Sanchez; C Obie; M P Flynn; D Valle; C A Hu
Journal:  Hum Mol Genet       Date:  1998-09       Impact factor: 6.150

4.  Type II hyperprolinaemia in a pedigree of Irish travellers (nomads).

Authors:  M P Flynn; M C Martin; P T Moore; J A Stafford; G A Fleming; J M Phang
Journal:  Arch Dis Child       Date:  1989-12       Impact factor: 3.791
  4 in total
  9 in total

1.  Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia.

Authors:  Steffi van de Ven; Thatjana Gardeitchik; Dorus Kouwenberg; Leo Kluijtmans; Ron Wevers; Eva Morava
Journal:  J Inherit Metab Dis       Date:  2013-10-31       Impact factor: 4.982

2.  Vitamin B6 is essential for serine de novo biosynthesis.

Authors:  Rúben J Ramos; Mia L Pras-Raves; Johan Gerrits; Maria van der Ham; Marcel Willemsen; Hubertus Prinsen; Boudewijn Burgering; Judith J Jans; Nanda M Verhoeven-Duif
Journal:  J Inherit Metab Dis       Date:  2017-08-11       Impact factor: 4.982

Review 3.  B6-responsive disorders: a model of vitamin dependency.

Authors:  Peter T Clayton
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

Review 4.  Lysine metabolism in mammalian brain: an update on the importance of recent discoveries.

Authors:  André Hallen; Joanne F Jamie; Arthur J L Cooper
Journal:  Amino Acids       Date:  2013-09-17       Impact factor: 3.520

Review 5.  Recent advances in amino acid and organic acid metabolism.

Authors:  J V Leonard
Journal:  J Inherit Metab Dis       Date:  2007-01-19       Impact factor: 4.750

Review 6.  Inborn errors of enzymes in glutamate metabolism.

Authors:  Lynne Rumping; Esmee Vringer; Roderick H J Houwen; Peter M van Hasselt; Judith J M Jans; Nanda M Verhoeven-Duif
Journal:  J Inherit Metab Dis       Date:  2019-10-11       Impact factor: 4.982

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

Authors:  Jona Merx; Rianne E van Outersterp; Udo F H Engelke; Veronique Hendriks; Ron A Wevers; Marleen C D G Huigen; Huub W A H Waterval; Irene M L W Körver-Keularts; Jasmin Mecinović; Floris P J T Rutjes; Jos Oomens; Karlien L M Coene; Jonathan Martens; Thomas J Boltje
Journal:  Commun Biol       Date:  2022-09-21

8.  Vitamin B6 in plasma and cerebrospinal fluid of children.

Authors:  Monique Albersen; Marjolein Bosma; Judith J M Jans; Floris C Hofstede; Peter M van Hasselt; Monique G M de Sain-van der Velden; Gepke Visser; Nanda M Verhoeven-Duif
Journal:  PLoS One       Date:  2015-03-11       Impact factor: 3.240

9.  Biochemical and clinical features of hereditary hyperprolinemia.

Authors:  Hiroshi Mitsubuchi; Kimitoshi Nakamura; Shirou Matsumoto; Fumio Endo
Journal:  Pediatr Int       Date:  2014-08       Impact factor: 1.524
  9 in total

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