GAMT deficiency

Mercimek-Mahmutoglu, Saadet; Stoeckler-Ipsiroglu, Sylvia; Adami, A.; Appleton, Richard; Araújo, Helena Caldeira; Durán, Marinus; Ensenauer, Regina; Fernández-Álvarez, E; Garcia, Paula; Grolik, Christiane; Item, Chike B.; Leuzzi, Vincenzo; Marquardt, Iris; Mühl, Adolf; Saelke-Kellermann, R. A.; Salomons, Gajja S.; Schulze, Andreas; Surtees, Robert; Knaap, Marjo S. van der; Vasconcelos, Renata dos Santos; Verhoeven, Nanda M.; Vilarinho, Laura; Wilichowski, Ekkehard; Jakobs, Cornelis

doi:10.1212/01.wnl.0000234852.43688.bf

Cited by 147 publications

(145 citation statements)

References 25 publications

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“…Samples from patients with AGAT deficiency typically have extremely low, almost undetectable concentrations of guanidinoacetate. Cases of GAMT deficiency are generally characterized by greatly increased guanidinoacetate concentrations (20-30 times that of controls), 63 although these levels may vary; hence, repeat analysis is recommended in situations involving moderate elevations (unpublished observations). Note that guanidinoacetate concentrations tend to be significantly lower in patients taking creatine and ornithine supplements, consistent with the negative regulatory effect imposed by these compounds on AGAT activity.…”

Section: Discussionmentioning

confidence: 99%

Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics

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Bodamer

Longo

et al. 2017

Genetics in Medicine

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Disclaimer: These ACMG Standards and Guidelines are intended as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines is voluntary and does not necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of others that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, clinical laboratory geneticists should apply their professional judgment to the specific circumstances presented by the patient or specimen. Clinical laboratory geneticists are encouraged to document in the patient's record the rationale for the use of a particular procedure or test, whether or not it is in conformance with these Standards and Guidelines. They also are advised to take notice of the date any particular guideline was adopted, and to consider other relevant medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.

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Section: Discussionmentioning

confidence: 99%

Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics

Sharer

Bodamer

Longo

et al. 2017

Genetics in Medicine

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“…Creatine is a crucial compound for energy metabolism and is carried to the brain and muscle by a specific transporter [31]. Three inherited defects in the biosynthesis and transport of creatine were reported including : guanidinoacetate methyltransferase deficiency (GAMT gene), L-arginine-glycine amidinotransferase deficiency (GATM gene) and the X-linked creatine transporter deficiency (due to the SLC6A8 gene mutations) [31].…”

Section: Creatine Deficiencymentioning

confidence: 99%

“…Three inherited defects in the biosynthesis and transport of creatine were reported including : guanidinoacetate methyltransferase deficiency (GAMT gene), L-arginine-glycine amidinotransferase deficiency (GATM gene) and the X-linked creatine transporter deficiency (due to the SLC6A8 gene mutations) [31]. GAMT deficiency has been usually associated to the worst phenotype and it may be disclosed within the first month of life with epileptic seizures [31]. Diagnosis need to be supported by brain magnetic resonance spectroscopy showing reduced or completely absent creatine peak [31].…”

Section: Creatine Deficiencymentioning

confidence: 99%

“…GAMT deficiency has been usually associated to the worst phenotype and it may be disclosed within the first month of life with epileptic seizures [31]. Diagnosis need to be supported by brain magnetic resonance spectroscopy showing reduced or completely absent creatine peak [31]. A reduced creatine peak has been shown as early as 9 days of age [5].…”

Section: Creatine Deficiencymentioning

confidence: 99%

“…GABA-transaminase deficiency is a very rare disease with only few reported cases possibly associated to neonatal-onset seizures [32]. It is later characterized by abnormal development, epilepsy with high levels of GABA in serum and cerebrospinal fluid [32].…”

Section: Disorders Of Gaba Metabolismmentioning

confidence: 99%

See 2 more Smart Citations

Neonatal Seizures and Inborn Errors of Metabolism: An Update

Parisi¹,

Nicotera²,

Alagna³

et al. 2015

Int J Pediatr Neonat Care

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Early identification of an underlying inborn error of metabolism in newborns with otherwise unexplained seizures may address appropriate disease-specific treatment and provide important tools about the choice of the antiepileptic drugs.Neonatal seizures usually present as prolonged or recurrent, often configuring epileptic status. Striking features of an underlying metabolic disorder include abnormal neurological examination, lethargy and/ or symptoms of acute decompensation.Ex adiuvantibus, trial with intravenous pyridoxine administration could be attempted in refractory unexplained neonatal seizures. Peculiar EEG patterns such as Suppression Burst may address diagnosis and laboratory work-up being most frequently associated to specific metabolic disorders.

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Quantification of Creatine and Guanidinoacetate Using GC‐MS and LC‐MS/MS for the Detection of Cerebral Creatine Deficiency Syndromes

2007

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Inherited defects in creatine biosynthesis and cellular uptake are neurometabolic disorders characterized by seizures, developmental delay, mental retardation, autistic-like behavior, and creatine deficiency in the brain. Metabolic screening of these disorders is possible using analytical techniques that quantify creatine and its precursor guanidinoacetate in urine, plasma, or cerebrospinal fluid (CSF). Elevated creatine in urine is suggestive of a deficiency of the X-linked creatine transporter, SLC6A8. Decreased or elevated levels of guanidinoacetate in urine, plasma, or CSF suggest deficiencies of the creatine biosynthetic enzymes, arginine:glycine amidinotransferase (AGAT) or guanidinoacetate methyltransferase (GAMT), respectively. This unit describes three stable isotope dilution-mass spectrometric methods for analyzing creatine and guanidinoacetate. Gas chromatography/mass spectrometry with negative-ion chemical ionization is a highly sensitive technique, suitable for detection of low analyte levels resulting from AGAT deficiency and in CSF. The two liquid chromatography-tandem mass spectrometric approaches are amenable to high-throughput screening and have simple sample preparation requirements.

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GAMT deficiency

Abstract: Guanidinoactetate methyltransferase deficiency should be considered in patients with unexplained intellectual disability, and urinary guanidinoacetate should be determined as an initial diagnostic approach.

Cited by 147 publications

References 25 publications

Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics

Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics

Neonatal Seizures and Inborn Errors of Metabolism: An Update

Quantification of Creatine and Guanidinoacetate Using GC‐MS and LC‐MS/MS for the Detection of Cerebral Creatine Deficiency Syndromes

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