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 citas
Cómo se estudió
- Diseño
- Reporte de caso (indexado por PubMed)
- Estudiado en
- Personas
- Resultado principal
- Marcadores de salud y funcionamiento
Quién lo pagó
- Financiación
- Financiación independiente
- Gobierno
- National Institutes of Health
- Gobierno
- Intramural NIH HHS
- Subvenciones
- National Institutes of Health (Z99 MH999999); National Institutes of Health (ZIA MH002868); National Institutes of Health (Z01 MH002868)
Según 2 financiadores declarados.
Publicación
- Publicado
- 2016-04-19 · J Dev Behav Pediatr · vol. 37 · número 4 · págs. 322–326
- Editorial
- Lippincott Williams & Wilkins
- Citado
- 16 citas · más que el 64% de estudios similares · 0.5× el promedio de su campo
- Referencias
- 22 trabajos
- Acceso
- Acceso abierto (copia en repositorio)
- Áreas de investigación
- Muscle metabolism and nutrition · Metabolism and Genetic Disorders · Amino Acid Enzymes and Metabolism
- Palabras clave
- 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 autores
- Audrey E. Thurm🇺🇸🇳🇱National 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 Himelstein🇺🇸🇳🇱National 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’Souza🇺🇸🇳🇱National 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. Rennert🇺🇸🇳🇱National 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 Jiang🇺🇸🇳🇱National 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 Olatunji🇺🇸🇳🇱National 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
- Nicola Longo🇺🇸🇳🇱National 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
- Marzia Pasquali🇺🇸🇳🇱National 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
- Susan E. Swedo🇺🇸🇳🇱National 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
- Gajja Sophi Salomons🇺🇸🇳🇱National 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
- Nuria Carrillo🇺🇸🇳🇱National 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
Resumen
El texto original del estudio, en el idioma en que se publicó.
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.
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