Synonyms: Creatine transporter deficiency | SLC6A8 deficiency
X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay autistic behavior and seizures.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
X-linked creatine transporter deficiency?
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Advocacy Organizations
Arthur’s Quest & SLC6A1 Connect UK
Arthur’s Quest & SLC6A1 Connect UK is a patient advocacy group dedicated to improving the lives of families affected by SLC6A1. Our focus is to raise awareness and funds to advance scientific research that will result in better therapeutics and precision medicines, whilst improving patient engagement and professional collaboration. Arthur’s Quest is a UK registered charity (Reg No. 1185380).
Association for Creatine Deficiencies
Our mission is to provide support and education to families and the scientific community, advocate for early diagnoses through newborn screening, and support and fund research for treatments and cures for Cerebral Creatine Deficiency Syndromes (CCDS) including AGAT Deficiency, GAMT Deficiency, and Creatine Transporter Deficiency (CTD).
Genetic Epilepsy Team Australia
Collaboration of research and care
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
Rare Epilepsy Network (REN)
Improving outcomes of people with rare epilepsies through an innovative collaborative infrastructure that drives urgent, patient-centered research, educaiton and advocacy.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.