Treatment outcome of creatine transporter deficiency: international retrospective cohort study

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TitreTreatment outcome of creatine transporter deficiency: international retrospective cohort study
Type de publicationJournal Article
Year of Publication2018
AuteursBruun TUJ, Sidky S, Bandeira AO, Debray F-G, Ficicioglu C, Goldstein J, Joost K, Koeberl DD, Luisa D, Nassogne M-C, O'Sullivan S, Ounap K, Schulze A, Van Maldergem L, Salomons GS, Mercimek-Andrews S
JournalMETABOLIC BRAIN DISEASE
Volume33
Pagination875-884
Date PublishedJUN
Type of ArticleArticle
ISSN0885-7490
Mots-clésArginine and glycine treatment, Creatine transporter deficiency, Creatine treatment, epilepsy, intellectual disability, SLC6A8
Résumé

To evaluate the outcome of current treatment for creatine transporter (CRTR) deficiency, we developed a clinical severity score and initiated an international treatment registry. An online questionnaire was completed by physicians following patients with CRTR deficiency on a treatment, including creatine and/or arginine, and/or glycine. Clinical severity score included 1) global developmental delay/intellectual disability; 2) seizures; 3) behavioural disorder. Phenotype scored 1-3 = mild; 4-6 = moderate; and 7-9 = severe. We applied the clinical severity score pre- and on-treatment. Seventeen patients, 14 males and 3 females, from 16 families were included. Four patients had severe, 6 patients had moderate, and 7 patients had a mild phenotype. The phenotype ranged from mild to severe in patients diagnosed at or before 2 years of age or older than 6 years of age. The phenotype ranged from mild to severe in patients with mildly elevated urine creatine to creatinine ratio. Fourteen patients were on the combined creatine, arginine and glycine therapy. On the combined treatment with creatine, arginine and glycine, none of the males showed either deterioration or improvements in their clinical severity score, whereas two females showed improvements in the clinical severity score. Creatine monotherapy resulted in deterioration of the clinical severity score in one male. There seems to be no correlation between phenotype and degree of elevation in urine creatine to creatinine ratio, genotype, or age at diagnosis. Combined creatine, arginine and glycine therapy might have stopped disease progression in males and improved phenotype in females.

DOI10.1007/s11011-018-0197-3