References
Schulze A. Creatine deficiency syndromes. Mol Cell Biochem. 2003;244:143–50.
van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, et al. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet. 2013;50:463–72.
Alcaide P, Rodriguez-Pombo P, Ruiz-Sala P, et al. A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene. Dev Med Child Neurol. 2010;52:215–7.
Mancini GM, Catsman-Berrevoets CE, de Coo IF, et al. Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families. Am J Med Genet A. 2005;132A:288–95.
van de Kamp JM, Pouwels PJ, Aarsen FK, et al. Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect. J Inherit Metab Dis. 2012;35:141–9.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of Interest
None.
Additional information
Publisher’s Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
About this article
Cite this article
Yoganathan, S., Sharma, S., Varman, M. et al. A Treatable Cause of Intellectual Disability and Autism in a Young Child. Indian J Pediatr 87, 850–851 (2020). https://doi.org/10.1007/s12098-020-03225-y
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12098-020-03225-y