Literature DB >> 16769397

Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.

Roberta Battini1, M Grazia Alessandrì, Vincenzo Leuzzi, Francesca Moro, Michela Tosetti, Maria C Bianchi, Giovanni Cioni.   

Abstract

Arginine:glycine amidinotransferase deficiency is a treatable inborn error of creatine synthesis, characterized by mental retardation, language impairment, and behavioral disorders. We describe a patient in whom arginine:glycine amidinotransferase was diagnosed at birth and treated at 4 months with creatine supplementation. In contrast with his 2 older sisters, he had normal psychomotor development at 18 months.

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Year:  2006        PMID： 16769397     DOI： 10.1016/j.jpeds.2006.01.043

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  22 in total

1.  Characterization of AGAT, GAMT and CT1 in amphioxus: implications for the evolutionary conservation of creatine metabolism related molecules at the invertebrate-to-vertebrate transition.

Authors:  Lifeng Wang; Dongyan Chen; Ying Zhang; Yushuang Lin; Jianwei Li; Hongwei Zhang
Journal:  Dev Genes Evol       Date:  2008-09-05       Impact factor: 0.900

2.  Deletion of the creatine transporter gene in neonatal, but not adult, mice leads to cognitive deficits.

Authors:  Kenea C Udobi; Nicholas Delcimmuto; Amanda N Kokenge; Zuhair I Abdulla; Marla K Perna; Matthew R Skelton
Journal:  J Inherit Metab Dis       Date:  2019-07-04       Impact factor: 4.982

3.  Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.

Authors:  Vassili Valayannopoulos; Nathalie Boddaert; Allel Chabli; Valerie Barbier; Isabelle Desguerre; Anne Philippe; Alexandra Afenjar; Michel Mazzuca; David Cheillan; Arnold Munnich; Yves de Keyzer; Cornelis Jakobs; Gajja S Salomons; Pascale de Lonlay
Journal:  J Inherit Metab Dis       Date:  2011-06-10       Impact factor: 4.982

Review 4.  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 5.  Creatine metabolism and psychiatric disorders: Does creatine supplementation have therapeutic value?

Authors:  Patricia J Allen
Journal:  Neurosci Biobehav Rev       Date:  2012-03-24       Impact factor: 8.989

Review 6.  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 7.  The biological basis of injury and neuroprotection in the fetal and neonatal brain.

Authors:  Sandra Rees; Richard Harding; David Walker
Journal:  Int J Dev Neurosci       Date:  2011-04-15       Impact factor: 2.457

Review 8.  Creatine as a Neuroprotector: an Actor that Can Play Many Parts.

Authors:  Eduardo Peil Marques; Angela T S Wyse
Journal:  Neurotox Res       Date:  2019-05-08       Impact factor: 3.911

Review 9.  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

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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