Creatine transporter deficiency, an underdiagnosed cause of male intellectual disability
Jangid N, Surana P, Salmonos G, Jain V
BMJ case reports · 7 citations
Review labels
Neutral facts our review recorded about how this study was done. They describe method, never whether we like the result.
How it was studied
- Design
- Case report (indexed by PubMed)
- Studied in
- People
- Main outcome
- Health markers and function
Who paid for it
- Funding
- Funding not disclosed
Publication
- Published
- 2020-12-01 · BMJ Case Rep · vol. 13 · issue 12 · p. e237542
- Publisher
- BMJ
- Cited
- 8 citations · more than 63% of similar papers · 0.6× the field average
- References
- 15 works
- Access
- Open access (repository copy)
- Research areas
- Muscle metabolism and nutrition · Diet and metabolism studies · Metabolism and Genetic Disorders
- Keywords
- Creatine, Epilepsy, Creatine Monohydrate, Xq28, Internal medicine, Autism, Medicine, Endocrinology, Intellectual disability, Creatinine, Autism spectrum disorder, Magnetic resonance imaging, Psychology, Psychiatry, Pathology, Genetics, Gene, Biology, Phenotype, Radiology
- MeSH
- humans, brain diseases, metabolic, inborn, epilepsy, creatine, nerve tissue proteins, magnetic resonance spectroscopy, autistic disorder, mutation, child, preschool, male, plasma membrane neurotransmitter transport proteins, hemizygote, intellectual disability, x-linked intellectual disability
4 authors
From IN, GB
- Neha JangidSantokba Durlabhji Memorial hospital
- Priyanka SuranaSantokba Durlabhji Memorial hospital; University of Glasgow
- Gajja Salmonos
- Vivek Jain · correspondingSantokba Durlabhji Memorial hospital
Abstract
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.
Abstract via Europe PMC. Copyright remains with the authors or publisher.
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