Literature DB >> 16924036

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency.

A Schulze1, G F Hoffmann, P Bachert, S Kirsch, G S Salomons, N M Verhoeven, E Mayatepek.   

Abstract

Prospective observation in a neonate with guanidinoacetate methyltransferase deficiency (GAMT-D), a severe neurometabolic disorder, revealed increased guanidinoacetate levels at birth. After 14-month treatment with creatine, high-dose ornithine, benzoate, and an arginine-restricted diet, the patient's development is normal and she does not present any symptoms of GAMT-D. The authors' observation indicates that early detection of GAMT-D is possible in the neonatal period, and presymptomatic treatment may prevent its manifestation.

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Year:  2006        PMID： 16924036     DOI： 10.1212/01.wnl.0000230152.25203.01

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  16 in total

1.  Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.

Authors:  Caro-Lyne Desroches; Jaina Patel; Peixiang Wang; Berge Minassian; Christian R Marshall; Gajja S Salomons; Saadet Mercimek-Mahmutoglu
Journal:  Mol Genet Genomics       Date:  2015-05-24       Impact factor: 3.291

Review 2.  X-linked creatine transporter deficiency: clinical aspects and pathophysiology.

Authors:  Jiddeke M van de Kamp; Grazia M Mancini; Gajja S Salomons
Journal:  J Inherit Metab Dis       Date:  2014-05-01       Impact factor: 4.982

Review 3.  Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers.

Authors:  Olivier Braissant
Journal:  J Inherit Metab Dis       Date:  2012-01-18       Impact factor: 4.982

Review 4.  Treatable Inherited Movement Disorders in Children: Spotlight on Clinical and Biochemical Features.

Authors:  Serena Galosi; Francesca Nardecchia; Vincenzo Leuzzi
Journal:  Mov Disord Clin Pract       Date:  2020-02-04

5.  Arginine supplementation in four patients with X-linked creatine transporter defect.

Authors:  C Fons; A Sempere; A Arias; A López-Sala; P Póo; M Pineda; A Mas; M A Vilaseca; G S Salomons; A Ribes; R Artuch; J Campistol
Journal:  J Inherit Metab Dis       Date:  2008-10-16       Impact factor: 4.982

Review 6.  AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review.

Authors:  O Braissant; H Henry
Journal:  J Inherit Metab Dis       Date:  2008-04-04       Impact factor: 4.982

7.  A Japanese adult case of guanidinoacetate methyltransferase deficiency.

Authors:  Tomoyuki Akiyama; Hitoshi Osaka; Hiroko Shimbo; Tomoshi Nakajiri; Katsuhiro Kobayashi; Makio Oka; Fumika Endoh; Harumi Yoshinaga
Journal:  JIMD Rep       Date:  2013-07-12

8.  Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency.

Authors:  Marzia Pasquali; Elisabeth Schwarz; Maren Jensen; Tatiana Yuzyuk; Irene DeBiase; Harper Randall; Nicola Longo
Journal:  J Inherit Metab Dis       Date:  2013-11-26       Impact factor: 4.982

9.  Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.

Authors:  David Cheillan; Marie Joncquel-Chevalier Curt; Gilbert Briand; Gajja S Salomons; Karine Mention-Mulliez; Dries Dobbelaere; Jean-Marie Cuisset; Laurence Lion-François; Vincent Des Portes; Allel Chabli; Vassili Valayannopoulos; Jean-François Benoist; Jean-Marc Pinard; Gilles Simard; Olivier Douay; Kumaran Deiva; Alexandra Afenjar; Delphine Héron; François Rivier; Brigitte Chabrol; Fabienne Prieur; François Cartault; Gaëlle Pitelet; Alice Goldenberg; Soumeya Bekri; Marion Gerard; Richard Delorme; Marc Tardieu; Nicole Porchet; Christine Vianey-Saban; Joseph Vamecq
Journal:  Orphanet J Rare Dis       Date:  2012-12-13       Impact factor: 4.123

10.  Developmental changes in the expression of creatine synthesizing enzymes and creatine transporter in a precocial rodent, the spiny mouse.

Authors:  Zoe Ireland; Aaron P Russell; Theo Wallimann; David W Walker; Rod Snow
Journal:  BMC Dev Biol       Date:  2009-07-01       Impact factor: 1.978
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