Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree

Battini, Roberta; Leuzzi, Vincenzo; Carducci, Carla; Tosetti, Michela; Bianchi, Maria Cristina; Item, Chike B.; Stöckler‐Ipsiroglu, Sylvia; Cioni, Giovanni

doi:10.1016/s1096-7192(02)00175-0

Cited by 93 publications

(72 citation statements)

References 15 publications

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“…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. Patients with all forms of CDS have been reported to have ASD symptoms.…”

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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“…In patients, creatine deficiency syndromes have several common clinical manifestations, including cognitive dysfunction with mental retardation, poor language skills, and autism spectrum disorders (9)(10)(11)(12)(13)(14)(15). Proton magnetic resonance spectroscopy (MRS) of affected patients shows an absence or dramatic diminution of the creatine peak, with relatively normal levels of n-acetyl aspartate (9,16,17).…”

Section: Introductionmentioning

confidence: 99%

Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency

Kurosawa¹,

deGrauw²,

Lindquist³

et al. 2012

J. Clin. Invest.

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“…41 AGAT deficiency appears to be much rarer, with fewer than 20 patients reported to date. 3,30,[42][43][44][45][46] Modes of inheritance CDS due to AGAT or GAMT deficiencies are inherited as autosomal recessive traits, while deficiency of CRTR is inherited as an X-linked trait.…”

Section: Prevalencementioning

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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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.

show abstract

Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree

Cited by 93 publications

References 15 publications

Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism

Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism

Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency

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

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