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[Clinical characterisation of creatine transporter deficiency associated with SLC6A8 gene variants].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Dec 2024

Yang L, Fang F, Jin H, Wu Y

Abstract excerpt

Objective: To analyze the clinical features of creatine transporter(CRTR) deficiency associated with SLC6A8 gene variants. Methods: The clinical data (clinical presentation, brain imaging, creatine metabolism test and gene variants) of 5 patients admitted to Beijing Children's Hospital, Capital Medical University and diagnosed with CRTR deficiency associated with SLC6A8 gene variants from January 2016 to June...

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Brain Diseases, Metabolic, Inborn
Creatine
Creatinine
Developmental Disabilities
Exome Sequencing

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Magnetic Resonance Spectroscopy

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PMID: 39563050
DOI: 10.3760/cma.j.cn112140-20240715-00485

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