Guanidinoacetate methyltransferase deficiency (GAMT)

Gordon, Neil

doi:10.1016/j.braindev.2009.01.008

Cited by 25 publications

(16 citation statements)

References 24 publications

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“…Treatment-refractory epilepsy, and extrapyramidal movement disorders present exclusively in GAMT-D, which has a clinical spectrum that encompasses mild and intermediate cases, as well as the most severe phenotype among CDSs that includes severe intellectual deficits. 9,10,12,14,15 AGAT-D has a milder phenotype, which includes developmental delay, speech impairment, and limited social contact, with mild seizures reported in some cases. 11,16,17 Boys with X-linked CrT-D generally have intellectual disability, speech and language deficits, show behavioral abnormalities, and may have seizure disorders, whereas girls usually manifest a continuum from normal to mild involvement.…”

Section: What This Study Addsmentioning

confidence: 99%

Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism

et al. 2016

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Section: What This Study Addsmentioning

confidence: 99%

Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism

et al. 2016

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“…Interestingly, some of the identified metabolites were previously implicated in the pathogenesis of MS and EAE (histamine, glutamate) 23, 24 or identified as markers of metabolic diseases with associated neurological problems (3-hydroxyisobutyric acid, 3-ureidopropionate, guanidinoacetate). 25–27 Also, one of the identified metabolites, indoxyl sulfate, is likely to originate from the gut microflora. 28 This is consistent with the previous observation that EAE-induction and progression is influenced by gut microorganisms as opposed to attenuation of EAE in germ-free mice.…”

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confidence: 99%

Potential of Urinary Metabolites for Diagnosing Multiple Sclerosis

et al. 2013

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A definitive diagnostic test for multiple sclerosis (MS) does not exist; instead physicians use a combination of medical history, magnetic resonance imaging, and cerebrospinal fluid analysis (CSF). Significant effort has been employed to identify biomarkers from CSF to facilitate MS diagnosis; however none of the proposed biomarkers have been successful to date. Urine is a proven source of metabolite biomarkers and has the potential to be a rapid, non-invasive, inexpensive, and efficient diagnostic tool for various human diseases. Nevertheless, urinary metabolites have not been extensively explored as a source of biomarkers for MS. Instead, we demonstrate that urinary metabolites have significant promise for monitoring disease-progression, and response to treatment in MS patients. NMR analysis of urine permitted the identification of metabolites that differentiate experimental autoimmune encephalomyelitis (EAE)-mice (prototypic disease model for MS) from healthy and MS drug-treated EAE mice.

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“…GAMT deficiency, which is a rare recessive metabolic disorder in the pathway of creatine synthesis, results in a lack of creatine in both brain and muscle and an accumulation of GAA, an intermediary metabolite in creatine synthesis, in the brain and body fluids 5 . In all forms of the CDS, creatinine level is low in all body fluids.…”

Section: Discussionmentioning

confidence: 99%

A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism

Aydin

Sönmez

2019

Turk J Pediatr

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Aydın Hİ, Sönmez FM. A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism. Turk J Pediatr 2019; 61: 92-96.Guanidinoacetate methyltransferase (GAMT) deficiency is a rare autosomal recessive disorder of creatine biosynthesis. Here, we report 9 and 10-year-old cousins with GAMT deficiency caused by a novel mutation who both exhibited neurodevelopmental retardation, seizures, behavioral problems, and autism that began during early infancy. The patients were diagnosed as having only autism and followed for years without a specific diagnosis although they had very low levels of serum creatinine for several times. A novel nonsense mutation in the GAMT gene that caused cessation of synthesis of the protein encoded by this gene was identified in these patients. GAMT deficiency is a treatable inborn error of metabolism and should be considered for all patients with hypotonia, developmental delay, seizures and autism, particularly if low serum creatinine levels are observed.

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Guanidinoacetate methyltransferase deficiency (GAMT)

Cited by 25 publications

References 24 publications

Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism

Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism

Potential of Urinary Metabolites for Diagnosing Multiple Sclerosis

A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism

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