Academic Journal
Creatine transporter deficiency, an underdiagnosed cause of male intellectual disability
| العنوان: | Creatine transporter deficiency, an underdiagnosed cause of male intellectual disability |
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| المؤلفون: | Jangid, Neha, Surana, Priyanka, Salmonos, Gajja, Jain, Vivek |
| المصدر: | BMJ Case Reports ; volume 13, issue 12, page e237542 ; ISSN 1757-790X |
| بيانات النشر: | BMJ |
| سنة النشر: | 2020 |
| الوصف: | X-linked creatine transporter deficiency is caused by the deficiency of the creatine transporter encoded by the SLC6A8 gene on Xq28. We here report a 3-year-old boy with global developmental delay, autism and epilepsy. He had a normal MRI of the brain. Brain magnetic resonance spectroscopy (MRS) subsequently showed an abnormally small creatine peak. His high urine creatine/creatinine ratio further suggested the diagnosis, later confirmed by hemizygous mutation detected in the SLC6A8 gene. His mother was also heterozygous for the same mutation. Supplementation with creatine monohydrate, arginine, and glycine (precursors of creatine) and supportive therapies, resulted in modest clinical improvement after 12 months. This case highlights the importance of doing MRS for boys with global delay/intellectual disability, autism and epilepsy even with a normal MRI of the brain, to pick up a potentially treatable cause. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1136/bcr-2020-237542 |
| الاتاحة: | http://dx.doi.org/10.1136/bcr-2020-237542 https://syndication.highwire.org/content/doi/10.1136/bcr-2020-237542 |
| رقم الانضمام: | edsbas.4E4BD9DB |
| قاعدة البيانات: | BASE |
| DOI: | 10.1136/bcr-2020-237542 |
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