ReviewJournal of inherited metabolic disease2014
X-linked creatine transporter deficiency: clinical aspects and pathophysiology.
Review in Journal of inherited metabolic disease, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
52 citing papers in PubMed, 1 synthesis or guideline pooled it, 115 citations in OpenAlex.
- Creatine in Health and Disease.Nutrients · 2021Pooled it
- Diagnostic timing in cerebral creatine deficiency syndromes: neurodevelopmental and genetic characterization of a multicenter cohort.European journal of pediatrics · 2026Observational
- The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.Brain : a journal of neurology · 2026Article
- Delineation of Facial Dysmorphology in Males With Creatine Transporter Defect.American journal of medical genetics. Part A · 2026Article
- Rapid LC-MS/MS Method for Targeted Assay of Creatine Deficiency Syndromes in Morocco.Metabolites · 2026Article
- Connectomic and behavioural alterations in creatine transporter deficiency are partially normalized by gene therapy.Brain : a journal of neurology · 2026Article
- Advancing clinical insight into creatine transporter deficiency: long term outcome and new observations from the Italian cohort.Orphanet journal of rare diseases · 2026Observational
- Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.Pediatric neurology · 2026Observational
- Whey protein and creatine supplementation in autistic adult women: a call for sex- and age-specific research.Frontiers in nutrition · 2026Article
- Outcome of creatine supplementation therapy in phosphoglucomutase-1 deficiency associated congenital disorders of glycosylation: Novel insights.Molecular genetics and metabolism reports · 2025Article
- Creatine transporter (SLC6A8) knockout mice exhibit reduced muscle performance, disrupted mitochondrial CaCell death & disease · 2025Article
- Successful management of refractory epilepsy in creatine transporter deficiency with cannabidiol and clobazam: A case report.Epilepsia open · 2025Article
- Rescue of myocytes and locomotion throughMolecular therapy. Methods & clinical development · 2024Article
- Intestinal Epithelial Creatine Transporter SLC6A8 Dysregulation in Inflammation and in Response to Adherent InvasiveInternational journal of molecular sciences · 2024Article
- Dodecyl creatine ester therapy: from promise to reality.Cellular and molecular life sciences : CMLS · 2024Article
- Selective Alteration of the Left Arcuate Fasciculus in Two Patients Affected by Creatine Transporter Deficiency.Brain sciences · 2024Article
- Article
- Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency.Molecular genetics and metabolism reports · 2023Article
- Article
- Diagnosis and Treatment of X-Linked Creatine Transporter Deficiency: Case Report and Literature Review.Brain sciences · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Creatine transporter deficiency was discovered in 2001 as an X-linked cause of intellectual disability characterized by cerebral creatine deficiency. This review describes the current knowledge regarding creatine metabolism, the creatine transporter and the clinical aspects of creatine transporter deficiency. The condition mainly affects the brain while other creatine requiring organs, such as the muscles, are relatively spared. Recent studies have provided strong evidence that creatine synthesis also occurs in the brain, leading to the intriguing question of why cerebral creatine is deficient in creatine transporter deficiency. The possible mechanisms explaining the cerebral creatine deficiency are discussed. The creatine transporter knockout mouse provides a good model to study the disease. Over the past years several treatment options have been explored but no treatment has been proven effective. Understanding the pathogenesis of creatine transporter deficiency is of paramount importance in the development of an effective treatment.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.