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Literature DB >> 23583224

Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.

Areeg H El-Gharbawy¹, Jennifer L Goldstein, David S Millington, Amie E Vaisnins, Andrea Schlune, Bruce A Barshop, Andreas Schulze, Dwight D Koeberl, Sarah P Young.

Abstract

Guanidinoacetate methyltransferase (GAMT) deficiency is a good candidate disorder for newborn screening because early treatment appears to improve outcomes. We report elevation of guanidinoacetate in archived newborn dried blood spots for 3 cases (2 families) of GAMT deficiency compared with an unaffected carrier and controls. We also report a new case of a patient treated from birth with normal developmental outcome at the age of 42 months.

Entities: Chemical Disease Gene Mutation Species

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Year: 2013 PMID： 23583224 DOI： 10.1016/j.ymgme.2013.03.003

Source DB: PubMed Journal: Mol Genet Metab ISSN： 1096-7192 Impact factor: 4.797

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Cited

8 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

2. Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis.

Authors: Lisette M Berends; Eduard A Struys; Birthe Roos; Ulbe Holwerda; Erwin E W Jansen; Gajja S Salomons; Mirjam M C Wamelink
Journal: JIMD Rep Date: 2017-02-21

Review 3. Intellectual Disability and Brain Creatine Deficit: Phenotyping of the Genetic Mouse Model for GAMT Deficiency.

Authors: Luigia Rossi; Francesca Nardecchia; Francesca Pierigè; Rossella Ventura; Claudia Carducci; Vincenzo Leuzzi; Mauro Magnani; Simona Cabib; Tiziana Pascucci
Journal: Genes (Basel) Date: 2021-08-02 Impact factor: 4.096

4. Non-derivatized Assay for the Simultaneous Detection of Amino Acids, Acylcarnitines, Succinylacetone, Creatine, and Guanidinoacetic Acid in Dried Blood Spots by Tandem Mass Spectrometry.

Authors: Carter K Asef; Kameron M Khaksarfard; Víctor R De Jesús
Journal: Int J Neonatal Screen Date: 2016-11-24

Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.

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

2. Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis.

Review 3. Intellectual Disability and Brain Creatine Deficit: Phenotyping of the Genetic Mouse Model for GAMT Deficiency.

4. Non-derivatized Assay for the Simultaneous Detection of Amino Acids, Acylcarnitines, Succinylacetone, Creatine, and Guanidinoacetic Acid in Dried Blood Spots by Tandem Mass Spectrometry.

5. A Japanese adult case of guanidinoacetate methyltransferase deficiency.

Review 6. Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.

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

8. Urine creatine metabolite panel as a screening test in neurodevelopmental disorders.