Oxidative phosphorylation in creatine transporter deficiency.
NMR Biomed
; 34(1): e4419, 2021 01.
Article
en En
| MEDLINE
| ID: mdl-32990357
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fosforilación Oxidativa
/
Proteínas de Transporte de Membrana
/
Imagen por Resonancia Magnética
Límite:
Adolescent
/
Child
/
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
NMR Biomed
Asunto de la revista:
DIAGNOSTICO POR IMAGEM
/
MEDICINA NUCLEAR
Año:
2021
Tipo del documento:
Article