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Oxidative phosphorylation in creatine transporter deficiency.

ABSTRACT: X-linked creatine transporter deficiency (CTD) is one of the three types of cerebral creatine deficiency disorders. CTD arises from pathogenic variants in the X-linked gene SLC6A8. We report the first phosphorus (³¹ P) MRS study of patients with CTD, where both phosphocreatine and total creatine concentrations were found to be markedly reduced. Despite the diminished role of creatine and phosphocreatine in oxidative phosphorylation in CTD, we found no elevation of lactate or lowered pH, indicating that the brain energy supply still largely relied on oxidative metabolism. Our results suggest that mitochondrial function is a potential therapeutic target for CTD.

SUBMITTER: Li S

PROVIDER: S-EPMC7722185 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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Oxidative phosphorylation in creatine transporter deficiency.

Li Shizhe S Bianconi Simona S van der Veen Jan Willem JW Dang Do An A Stolinski JoEllyn J Cecil Kim M KM Hannah-Shmouni Fady F Porter Forbes D FD Shen Jun J

NMR in biomedicine 20200929 1

X-linked creatine transporter deficiency (CTD) is one of the three types of cerebral creatine deficiency disorders. CTD arises from pathogenic variants in the X-linked gene SLC6A8. We report the first phosphorus (<sup>31</sup> P) MRS study of patients with CTD, where both phosphocreatine and total creatine concentrations were found to be markedly reduced. Despite the diminished role of creatine and phosphocreatine in oxidative phosphorylation in CTD, we found no elevation of lactate or lowered p ...[more]

PMID: 32990357

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