Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case
Thurm A, Himelstein D, DʼSouza P, Rennert O, Jiang S, Olatunji D, Longo N, Pasquali M, Swedo S, Salomons GS, Carrillo N
Journal of developmental and behavioral pediatrics : JDBP · 8 citations
How it was studied
- Design
- Case report (indexed by PubMed)
- Studied in
- People
- Main outcome
- Health markers and function
Who paid for it
- Funding
- Independent funding
- Government
- National Institutes of Health
- Government
- Intramural NIH HHS
- Grants
- National Institutes of Health (Z99 MH999999); National Institutes of Health (ZIA MH002868); National Institutes of Health (Z01 MH002868)
Based on 2 listed funder(s).
Publication
- Published
- 2016-04-19 · J Dev Behav Pediatr · vol. 37 · issue 4 · pp. 322–326
- Publisher
- Lippincott Williams & Wilkins
- Cited
- 16 citations · more than 64% of similar papers · 0.5× the field average
- References
- 22 works
- Access
- Open access (repository copy)
- Research areas
- Muscle metabolism and nutrition · Metabolism and Genetic Disorders · Amino Acid Enzymes and Metabolism
- Keywords
- Medicine, Creatine, Internal medicine
- MeSH
- humans, brain diseases, metabolic, inborn, creatine, membrane transport proteins, nerve tissue proteins, developmental disabilities, child, male, plasma membrane neurotransmitter transport proteins, intellectual disability, autism spectrum disorder, x-linked intellectual disability
11 authors
From US, NL
- Audrey E. ThurmNational Institutes of Health; Amsterdam Neuroscience; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; National Institute of Mental Health
- Daniel HimelsteinNational Institutes of Health; Amsterdam Neuroscience; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; National Institute of Mental Health
- Precilla D’SouzaNational Institutes of Health; Amsterdam Neuroscience; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; National Institute of Mental Health
- Owen M. RennertNational Institutes of Health; Amsterdam Neuroscience; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; National Institute of Mental Health
- Susanqi JiangNational Institutes of Health; Amsterdam Neuroscience; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; National Institute of Mental Health
- Damilola OlatunjiNational Institutes of Health; Amsterdam Neuroscience; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; National Institute of Mental Health
Abstract
Objective
Creatine transporter deficiency (CTD) is an X-linked, neurometabolic disorder associated with intellectual disability that is characterized by brain creatine (Cr) deficiency and caused by mutations in SLC6A8, the Cr transporter 1 protein gene. CTD is identified by elevated urine creatine/creatinine (Cr/Crn) ratio or reduced Cr peak on brain magnetic resonance spectroscopy; the diagnosis is confirmed by decreased Cr uptake in cultured fibroblasts, and/or identification of a mutation in the SLC6A8 gene. Prevalence studies suggest this disorder may be underdiagnosed. We sought to identify cases from a well-characterized cohort of children diagnosed with neurodevelopmental disorders.
Method
Urine screening for CTD was performed on a cohort of 46 males with autism spectrum disorder (ASD) and 9 males with a history of non-ASD developmental delay (DD) classified with intellectual disability.
Results
We identified 1 patient with CTD in the cohort based on abnormal urine Cr/Crn, and confirmed the diagnosis by the identification of a novel frameshift mutation in the SLC6A8 gene. This patient presented without ASD but with intellectual disability, and was characterized by a nonspecific phenotype of early language delay and DD that persisted into moderate-to-severe intellectual disability, consistent with previous descriptions of CTD.
Conclusion
Identification of patients with CTD is possible by measuring urine Cr and Crn levels and the current case adds to the growing literature of neurocognitive deficits associated with the disorder that affect cognition, language and behavior in childhood.
Abstract via Europe PMC. Copyright remains with the authors or publisher.
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