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Article

Creatine transporter deficiency, an underdiagnosed cause of male intellectual disability.

BMJ case reports - 17 Dec 2020

Jangid Neha, Surana Priyanka, Salmonos Gajja, Jain Vivek

Abstract excerpt

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...

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Identifiers

PMID: 33334757
DOI: 10.1136/bcr-2020-237542
PMCID: PMC7747534

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