X-linked Creatine deficiency

An X-linked disorder of creatine (Cr) transport characterized by intellectual disability, severe SPEECH DELAY, behavioral abnormalities, and SEIZURES. It has a prevalence of 0.3 to 3.5% in males. Carrier females may show mild neuropsychologic impairment. Mutations in the SLC6A8 gene have been identified. OMIM: 300352

Also Known As:

Creatine deficiency, X-linked; CCDS1; Cerebral creatine deficiency syndrome 1; Creatine Deficiency Syndrome, X-Linked; Creatine Transporter Defect; Creatine Transporter Deficiency; Mental Retardation, X-Linked, with Seizures, Short Stature, and Midface Hypoplasia; Mental retardation, X-linked, with creatine transport deficiency; Slc6a8 Deficiency; Slc6a8-Related Creatine Transporter Deficiency; X-Linked Creatine Deficiency; X-linked creatine deficiency syndrome; X-linked creatine transporter deficiency

Networked: 73 relevant articles (2 outcomes, 4 trials/studies)

Relationship Network

Bio-Agent Context: Research Results

Experts

1.	Salomons, Gajja S: 15 articles (01/2016 - 05/2002)
2.	Jakobs, Cornelis: 8 articles (12/2010 - 05/2002)
3.	Salomons, G S: 6 articles (02/2015 - 10/2002)
4.	Jakobs, C: 6 articles (07/2013 - 10/2002)
5.	Stockler-Ipsiroglu, Sylvia: 4 articles (10/2021 - 12/2010)
6.	Alessandrì, Maria Grazia: 4 articles (10/2020 - 01/2014)
7.	Baroncelli, Laura: 4 articles (10/2020 - 01/2014)
8.	Cioni, Giovanni: 4 articles (10/2020 - 01/2014)
9.	Pizzorusso, Tommaso: 4 articles (10/2020 - 01/2014)
10.	Putignano, Elena: 4 articles (10/2020 - 01/2014)

Related Diseases

1.	Guanidinoacetate methyltransferase deficiency 12/13/2012 - "Three additional affected sibs were further identified after familial inquiry (1 brother with GAMT deficiency and 2 brothers with SLC6A8 deficiency in two different families). " 03/01/2010 - "Patients with guanidinoacetate methyltransferase deficiency or creatine transporter deficiency may exhibit autistic behavior. " 01/01/2002 - "Oral creatine supplementation improved the clinical symptoms in both AGAT and GAMT deficiency, but not in creatine transporter deficiency. " 01/01/2023 - "These findings stress the role of substantially elevated GAA as a primary neurotoxic agent in GAMT deficiency and we discuss the potential role of GAA in arginase (and creatine transporter) deficiency which show a much more modest increase in GAA concentrations yet share the unique hyperexcitability neuropathology with GAMT deficiency. " 04/01/2022 - "Thirteen patients were eligible [8 creatine transporter deficiency (CTD), 4 guanidinoacetate methyltransferase (GAMT) deficiency and 1 could not be classified]. "
2.	Disease Progression 01/01/2020 - "There is currently no cure for creatine transporter deficiency, and reliable biomarkers of translational value for monitoring disease progression and response to therapeutics are sorely lacking. "
3.	Intellectual Disability (Idiocy) 11/01/2023 - "Creatine transporter deficiency (CTD), caused by pathogenic variants in SLC6A8, is the second most common cause of X-linked intellectual disability. " 06/01/2021 - "Creatine transporter deficiency (CTD) is an X-linked form of intellectual disability (ID) caused by SCL6A8 mutations. " 12/17/2020 - "Creatine transporter deficiency, an underdiagnosed cause of male intellectual disability." 01/01/2020 - "SLC6A8 deficiency is characterized by intellectual disabilities, loss of speech, and behavioral abnormalities. " 11/06/2018 - "A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report."
4.	Autism Spectrum Disorder 11/01/2020 - "We illustrate these limitations of norm-referenced scores, and relative advantages of ability scores, using data from studies of autism spectrum disorder and creatine transporter deficiency." 11/01/2020 - "Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder." 01/01/2018 - "Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder." 12/01/2007 - "Given that autistic features are found in a number of patients with CDS, SLC6A8 deficiency as well as the treatable forms of CDS should be included in the differential diagnosis of patients with autism spectrum disorder." 12/01/2007 - "Screening of male patients with autism spectrum disorder for creatine transporter deficiency."
5.	Neurodevelopmental Disorders 12/02/2020 - "The prevalence of creatine transporter deficiency was 2.64% in our study in patients with neurodevelopmental disorders who underwent screening or monitoring of CCDS at our institution. " 01/01/2016 - "Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case."

Related Drugs and Biologics

1.	Creatine
2.	Biomarkers (Surrogate Marker)
3.	Proteins (Proteins, Gene)
4.	CPLX inhibitor
5.	creatine transporter
6.	Arginine-Glycine Amidinotransferase Deficiency
7.	glycine amidinotransferase (arginine-glycine amidinotransferase)
8.	Guanidinoacetate N-Methyltransferase (Guanidinoacetate Methyltransferase)
9.	Protons (Proton)
10.	Glycine (Aminoacetic Acid)

Related Therapies and Procedures

1.	Therapeutics