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Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: Early treatment can prevent phenotypic expression of the disease
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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Battini et al. reported that a patient diagnosed at birth with AGAT deficiency who was treated with creatine supplementation beginning at 4 months of age experienced normal psychomotor development at 18 months compared to siblings who did not have the deficiency.
“For example, Battini et al. [150] reported that a patient diagnosed at birth with AGAT deficiency who was treated with creatine supplementation beginning at 4 months of age experienced normal psychomotor development at 18 months compared to siblings who did not have the deficiency.”
From International Society of Sports Nutrition position stand: safety and efficacy of creatine supplementation in exercise, sport, and medicine (2017) · cites this paper as [150]
Battini et al. reported on a child born with a creatine deficiency syndrome who, at 4 months of age, was treated with creatine supplementation.
“Similarly, Battini et al. (94) reported on a child born with a creatine deficiency syndrome who, at 4 months of age, was treated with creatine supplementation.”
From Safety of Creatine Supplementation in Active Adolescents and Youth: A Brief Review (2018) · cites this paper as [94]
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References 11 · Cited by 101
Research works printed but not linked: 7
- Bianchi, 2000, Reversible brain creatine deficiency in two sisters with normal blood creatine level, Ann Neurol, 47, 511, 10.1002/1531-8249(200004)47:4<511::AID-ANA15>3.0.CO;2-N · DOI
- Battini, 2002, Creatine depletion in a new case with AGAT deficiency, Mol Genet Metab, 77, 326, 10.1016/S1096-7192(02)00175-0 · DOI
- Item, 2001, Arginine:glycine amidinotransferase deficiency, Am J Hum Genet, 69, 1127, 10.1086/323765 · DOI · Paper page
- Alessandrì, 2005, GC/MS assay for arginine:glycine-amidino transferase deficiency, Anal Biochem, 343, 356, 10.1016/j.ab.2005.05.003 · DOI
- Carducci, 2002, Guanidinoacetate and creatine plus creatinine in physiologic fluids, Clin Chem, 48, 1772, 10.1093/clinchem/48.10.1772 · DOI
- Carducci, 2006, Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry, Clin Chim Acta, 364, 180, 10.1016/j.cca.2005.06.016 · DOI
- Hulsemann, 1987, Administration of creatine and creatinine with breast milk and infant milk preparations, Klin Padiatr, 199, 292
Metadata
- Authors
- Battini, R., Alessandrì, M. G., Leuzzi, V., Moro, F., Tosetti, M., Bianchi, M. C., & Cioni, G.
- Affiliations
- University of Pisa (IT)
- Corresponding author
- Cioni, Giovanni
- Venue
- The Journal of Pediatrics
- Publisher
- Elsevier BV
- Published
- 2006-06
- Volume
- 148
- Issue
- 6
- Pages
- 828-830
- ISSN
- 0022-3476 (ISSN-L)
- OpenAlex
- W1999205777
- Cited by
- 101
- References
- 11
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 3 · 2023: 3 · 2022: 3 · 2021: 6 · 2020: 5 · 2019: 5 · 2018: 4 · 2017: 4 · 2016: 4 · 2015: 5 · 2014: 7 · 2013: 6 · 2012: 7
- FWCI
- 4.38
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Pediatrics (publishedVersion)
- PubMed (publishedVersion)
- CINECA IRIS Institutial research information system (University of Pisa) (submittedVersion)
- IRIS Research product catalog (Sapienza University of Rome) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Biochemical and Molecular Research
- Keywords
- creatine supplementation, neonates, psychomotor development, intellectual disability, behavioral disorders, early treatment, phenotypic expression
- MeSH terms
- Amidinotransferases, Mental Disorders, Breast Feeding, Creatine, Humans, Infant, Newborn, Male, Metabolism, Inborn Errors, Milk, Human, Mutation, Magnetic Resonance Spectroscopy, Phenotype, Psychomotor Performance, Time Factors, Dietary Supplements
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