Treatment of intractable epilepsy in a female with SLC6A8 deficiency

Mercimek-Mahmutoglu, Saadet; Connolly, Mary; Poskitt, Kenneth J.; Horvath, Gabriella; Lowry, Noel J.; Salomons, Gajja S.; Casey, Brett; Sinclair, Graham; Davis, Cynthia J.; Jakobs, Cornelis; Stöckler‐Ipsiroglu, Sylvia

doi:10.1016/j.ymgme.2010.08.016

Cited by 73 publications

(46 citation statements)

References 16 publications

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“…Female carriers within the first families identified with CTD presented with a mild to moderate phenotype (33,34). However, a severe phenotype was described in a female with CTD deficiency (31). There was no evidence of skewed X-inactivation in peripheral blood cells, which suggests brain specific skewed X-inactivation for this female patient.…”

Section: Cerebral Creatine Deficiency Syndromesmentioning

confidence: 78%

“…Female carriers of CTD may show reduced creatine levels in the brain, but they generally do not have the profound cognitive deficits that are apparent in the males and the one reported severely affected female CTD patient (31,33,34,37).…”

Section: Magnetic Resonance Spectroscopymentioning

confidence: 95%

“…Upon treatment with creatine monohydrate, seizure frequency decreases with essentially complete control upon the addition of ornithine (29). There is a report of a seizure disorder in a CTD female, which was successfully treated with creatine supplementation (31). The first CTD patient reported demonstrated multifocal epileptiform discharges on EEG, however, other CTD patients have normal EEG patterns (5).…”

Section: Cerebral Creatine Deficiency Syndromesmentioning

confidence: 99%

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Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes

Clark

Cecil

2014

Pediatr Res

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Primary care pediatricians and a variety of specialist physicians strive to define an accurate diagnosis for children presenting with impairment of expressive speech and delay in achieving developmental milestones. Within the past two decades, a group of disorders featuring this presentation have been identified as cerebral creatine deficiency syndromes (CCDS). Patients with these disorders were initially discerned using proton magnetic resonance spectroscopy of the brain within a magnetic resonance imaging (MRI) examination. The objective of this review is to provide the clinician with an overview of the current information available on identifying and treating these conditions. We explain the salient features of creatine metabolism, synthesis, and transport required for normal development. We propose diagnostic approaches for confirming a CCDS diagnosis. Finally, we describe treatment approaches for managing patients with these conditions.

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Section: Cerebral Creatine Deficiency Syndromesmentioning

confidence: 78%

Section: Magnetic Resonance Spectroscopymentioning

confidence: 95%

Section: Cerebral Creatine Deficiency Syndromesmentioning

confidence: 99%

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Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes

Clark

Cecil

2014

Pediatr Res

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“…5,24 Females heterozygous for SLC6A8 pathogenic variants may be asymptomatic or present with signs and symptoms of variable severity, ranging from learning disabilities to seizures. [31][32][33] treatment Deficiency of both AGAT and GAMT can be treated with oral supplementation of creatine monohydrate. In addition, GAMT deficiency requires arginine restriction through a low-protein diet, and ornithine supplementation and benzoate (reduces glycine levels via the formation and excretion of hippuric acid) to reduce guanidinoacetate synthesis and its associated toxicity (creatine supplementation also partially inhibits guanidinoacetate formation 4,5 ).…”

Section: Functions Of Creatinementioning

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.

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“…All CDS can cause developmental delay, intellectual disability, behavioural problems, movement disorders, seizures, and severe disturbance of expressive language (Schulze, 2003). These clinical manifestations can be partially reversed by oral creatine supplementation and dietary manipulation, even in same patients with the creatine transporter defect (Chilosi et al, 2008;Mercimek-Mahmutoglu et al, 2010). CDS are suggested by marked reduction or complete absent of the creatine peak on MRS.…”

Section: Creatine Deficiency Syndromesmentioning

confidence: 99%