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Journal of Autism and Developmental Disorders

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15-12-2022 | Letter to the Editor

Case Report: X-Linked Creatine Transporter Deficiency in Two Saudi Brothers with Autism

Auteurs: Mohammed Almatrafi, Zehour Al-Sabban, Soher Balkhy, Iman Sabri Abumansour

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 3/2023

Excerpt

X-linked creatine transporter deficiency (CTD) was first described in 2001 (Cecil et al., 2001; Salomons et al., 2001). Its reported prevalence is approximately 2% in males with X-linked intellectual disabilities and ranges from 0.4 to 1.4% in males with intellectual disability/autism overall (Newmeyer et al., 2007; Van de Kamp et al., 2014). A previous genotype phenotype correlation study of CTD revealed that all affected males have an intellectual disability together with delayed speech development of variable severity (Van de Kamp et al., 2013). Other frequent clinical features include neurobehavioral disorders such as attention deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), seizures, hypotonia, spasticity, and dystonia. Gastrointestinal symptoms such as neonatal feeding difficulties, failure to thrive, vomiting, and chronic constipation have been reported in some patients (Van de Kamp et al., 2013). Subtle dysmorphic features may be seen such as midface hypoplasia, a dolicofacial skull shape, and prognathism (prominent chin) (Kleefstra et al., 2005). Cardiac, and retinal manifestations have occasionally been described as later-onset features in adulthood (Anselm et al., 2008; Van de Kamp et al., 2013). Carrier females are typically asymptomatic but learning disabilities have been described in some (Yıldız et al., 2020). …

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Anselm, I. A., Coulter, D. L., & Darras, B. T. (2008). Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8. Neurology, 70(18), 1642–1644. https://doi.org/10.1212/01.WNL.0000310987.04106.45CrossRefPubMed

Bruun, T. U. J., Sidky, S., Bandeira, A. O., Debray, F. G., Ficicioglu, C., Goldstein, J., Joost, K., Koeberl, D. D., Luísa, D., Nassogne, M. C., O’sullivan, S., Õunap, K., Schulze, A., Van Maldergem, L., Salomons, G. S., & Mercimek-Andrews, S. (2018). Treatment outcome of creatine transporter deficiency: International retrospective cohort study. Metabolic Brain Disorders, 33(3), 875–884. https://doi.org/10.1007/s11011-018-0197-3CrossRef

Cecil, K. M., Salomons, G. S., Ball, W. S., Wong, B., Chuck, G., Verhoeven, N. M., Jakobs, C., & Degrauw, T. J. (2001). Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect? Annals of Neurology, 49(3), 401–404. https://doi.org/10.1002/ANA.79CrossRefPubMed

Chilosi, A., Leuzzi, V., Battini, R., Tosetti, M., Ferretti, G., Comparini, A., Casarano, M., Moretti, E., Alessandrì, M. G., Bianchi, M. C., & Cioni, G. (2008). Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect. Neurocase, 14(2), 151–161. https://doi.org/10.1080/13554790802060821CrossRefPubMed

Dunbar, M., Jaggumantri, S., Sargent, M., Stockler-Ipsiroglu, S., & van Karnebeek, C. D. M. (2014). Treatment of X-linked creatine transporter (SLC6A8) deficiency: Systematic review of the literature and three new cases. Molecular Genetics and Metabolism, 112(4), 259–274. https://doi.org/10.1016/J.YMGME.2014.05.011CrossRefPubMed

Fons, C., Sempere, A., Arias, A., López-Sala, A., Póo, P., Pineda, M., Mas, A., Vilaseca, M. A., Salomons, G. S., Ribes, A., Artuch, R., & Campistol, J. (2008). Arginine supplementation in four patients with X-linked creatine transporter defect. Journal of Inherited Metabolic Disease, 31(6), 724–728. https://doi.org/10.1007/S10545-008-0902-1CrossRefPubMed

Kleefstra, T., Rosenberg, E. H., Salomons, G. S., Stroink, H., van Bokhoven, H., Hamel, B. C. J., & de Vries, B. B. A. (2005). Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6 A8 mutation. Clinical Genetics, 68(4), 379–381. https://doi.org/10.1111/J.1399-0004.2005.00489.XCrossRefPubMed

Mercimek-Mahmutoglu, S., Connolly, M. B., Poskitt, K. J., Horvath, G. A., Lowry, N., Salomons, G. S., Casey, B., Sinclair, G., Davis, C., Jakobs, C., & Stockler-Ipsiroglu, S. (2010). Treatment of intractable epilepsy in a female with SLC6A8 deficiency. Molecular Genetics and Metabolism, 101(4), 409–412. https://doi.org/10.1016/J.YMGME.2010.08.016CrossRefPubMed

Näntö-Salonen, K., Komu, M., Lundbom, N., Heinänen, K., Alanen, A., Sipilä, I., & Simell, O. (1999). Reduced brain creatine in gyrate atrophy of the choroid and retina with hyperornithinemia. Neurology, 53(2), 303–303. https://doi.org/10.1212/WNL.53.2.303CrossRefPubMed

Newmeyer, A., DeGrauw, T., Clark, J., Chuck, G., & Salomons, G. (2007). Screening of male patients with autism spectrum disorder for creatine transporter deficiency. Neuropediatrics, 38(6), 310–312. https://doi.org/10.1055/S-2008-1065353/ID/14CrossRefPubMed

Póo-Argüelles, P., Arias, A., Vilaseca, M. A., Ribes, A., Artuch, R., Sans-Fito, A., Moreno, A., Jakobs, C., & Salomons, G. (2006). X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism. Journal of Inherited Metabolic Disease, 29(1), 220–223. https://doi.org/10.1007/S10545-006-0212-4CrossRefPubMed

Reichold, M., Klootwijk, E. D., Reinders, J., Otto, E. A., Milani, M., Broeker, C., Laing, C., Wiesner, J., Devi, S., Zhou, W., Schmitt, R., Tegtmeier, I., Sterner, C., Doellerer, H., Renner, K., Oefner, P. J., Dettmer, K., Simbuerger, J. M., Witzgall, R., & Kleta, R. (2018). Glycine amidinotransferase (GATM), renal fanconi syndrome, and kidney failure. Journal of the American Society of Nephrology, 29(7), 1849–1858. https://doi.org/10.1681/ASN.2017111179CrossRefPubMedPubMedCentral

Salomons, G. S., Van Dooren, S. J. M., Verhoeven, N. M., Cecil, K. M., Ball, W. S., Degrauw, T. J., & Jakobs, C. (2001). X-linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome. American Journal of Human Genetics, 68(6), 1497–1500. https://doi.org/10.1086/320595CrossRefPubMedPubMedCentral

Stockler, S., Schutz, P. W., & Salomons, G. S. (2007). Cerebral creatine deficiency syndromes: Clinical aspects, treatment and pathophysiology. Sub-Cellular Biochemistry, 46, 149–166. https://doi.org/10.1007/978-1-4020-6486-9_8CrossRefPubMed

Valayannopoulos, V., Boddaert, N., Chabli, A., Barbier, V., Desguerre, I., Philippe, A., Afenjar, A., Mazzuca, M., Cheillan, D., Munnich, A., De Keyzer, Y., Jakobs, C., Salomons, G. S., & De Lonlay, P. (2012). Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect. Journal of Inherited Metabolic Disease, 35(1), 151–157. https://doi.org/10.1007/S10545-011-9358-9CrossRefPubMed

Van de Kamp, J. M., Betsalel, O. T., Mercimek-Mahmutoglu, S., Abulhoul, L., Grünewald, S., Anselm, I., Azzouz, H., Bratkovic, D., de Brouwer, A., Hamel, B., Kleefstra, T., Yntema, H., Campistol, J., Vilaseca, M. A., Cheillan, D., D’Hooghe, M., Diogo, L., Garcia, P., Valongo, C., & Salomons, G. S. (2013). Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. Journal of Medical Genetics, 50(7), 463–472. https://doi.org/10.1136/JMEDGENET-2013-101658CrossRefPubMed

Van de Kamp, J. M., Mancini, G. M., & Salomons, G. S. (2014). X-linked creatine transporter deficiency: Clinical aspects and pathophysiology. Journal of Inherited Metabolic Disease, 37(5), 715–733. https://doi.org/10.1007/S10545-014-9713-8CrossRef

Van de Kamp, J. M., Pouwels, P. J. W., Aarsen, F. K., Ten Hoopen, L. W., Knol, D. L., De Klerk, J. B., De Coo, I. F., Huijmans, J. G. M., Jakobs, C., Van Der Knaap, M. S., Salomons, G. S., & Mancini, G. M. S. (2012). Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect. Journal of Inherited Metabolic Disease, 35(1), 141–149. https://doi.org/10.1007/S10545-011-9345-1CrossRefPubMed

Yıldız, Y., Göçmen, R., Yaramış, A., Coşkun, T., & Haliloglu, G. (2020). Creatine transporter deficiency presenting as autism spectrum disorder. Pediatrics. https://doi.org/10.1542/peds.2019-3460CrossRefPubMed

Titel: Case Report: X-Linked Creatine Transporter Deficiency in Two Saudi Brothers with Autism
Auteurs: Mohammed Almatrafi
Zehour Al-Sabban
Soher Balkhy
Iman Sabri Abumansour
Publicatiedatum: 15-12-2022
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 3/2023
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-022-05860-0

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