X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.
case_report · Level V
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Abstract
Among creatine deficiency syndromes, an X-linked condition related to a defective creatine transport into the central nervous system has been described recently. Hallmarks of the disease are the absence of a creatine signal at brain spectroscopy, increased creatine levels in blood and urine, ineffectiveness of oral supplementation, and a mutation in the SLC6A8 (Online Mendelian Inheritance in Man [OMIM] 300036) creatine transporter gene. We report on a patient in whom a novel mutation (1221-1223delTTC) was identified.
Medical subject headings
- Creatine
- Genetic Linkage
- Membrane Transport Proteins
- Metabolism, Inborn Errors
- Mutation
- X Chromosome