ArticleMolecular and cellular biochemistry2004
Presence of normal creatine in the muscle of a patient with a mutation in the creatine transporter: a case study.
Article in Molecular and cellular biochemistry, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 37 citations in OpenAlex.
- Creatine transporter (SLC6A8) knockout mice exhibit reduced muscle performance, disrupted mitochondrial CaCell death & disease · 2025Article
- Evidence of an intracellular creatine-sensing mechanism that modulates creatine biosynthesis via AGAT expression in human HAP1 cells.Scientific reports · 2023Article
- Creatine transporter-deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophy.Journal of inherited metabolic disease · 2022Article
- Cooperative Binding of Substrate and Ions Drives Forward Cycling of the Human Creatine Transporter-1.Frontiers in physiology · 2022Article
- Review
- The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.Frontiers in synaptic neuroscience · 2020Review
- A Nervous System-Specific Model of Creatine Transporter Deficiency Recapitulates the Cognitive Endophenotype of the Disease: a Longitudinal Study.Scientific reports · 2019Article
- Cognitive deficits and increases in creatine precursors in a brain-specific knockout of the creatine transporter gene Slc6a8.Genes, brain, and behavior · 2018Article
- A Mouse Model of Creatine Transporter Deficiency Reveals Impaired Motor Function and Muscle Energy Metabolism.Frontiers in physiology · 2018Article
- Creatine transporter deficiency leads to increased whole body and cellular metabolism.Amino acids · 2016Article
- X-linked creatine transporter deficiency: clinical aspects and pathophysiology.Journal of inherited metabolic disease · 2014Review
- A guide to the metabolic pathways and function of metabolites observed in human brain 1H magnetic resonance spectra.Neurochemical research · 2014Review
- Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake.The Journal of physiology · 2013Article
- Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency.The Journal of clinical investigation · 2012Article
- Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency.Orphanet journal of rare diseases · 2012Article
- Article
- The regulation and expression of the creatine transporter: a brief review of creatine supplementation in humans and animals.Journal of the International Society of Sports Nutrition · 2006Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
To date, more than seven families have been reported who carry a mutation in the X-linked creatine-transporter (CrT) gene. The resulting lack of creatine in the brain is associated with mental retardation, severe expressive language disorder, mild epilepsy, and a complete absence of Cr in the brain (measured using MRS). Conversely, these patients had no observable cardiac or musculo-skeletal deficits. In this case study, a 22-year-old patient underwent surgical repair for scoliosis. Proton MRS of this patient's brain demonstrated the near-absence of creatine and phosphocreatine within the cerebral white and deep gray matter structures. Cerebral atrophy was noted with serial MRI examinations. Subsequent genetic and metabolic analysis showed some biochemical anomalies consistent with a CrT deficiency. The mutation in this patient was identified as a deletion at phenylalanine 107 (delF107). Control muscle biopsies were obtained from archived samples, which had been taken with informed consent during routine muscle biopsies for diagnostic purposes. We determined that the total Cr concentration in the skeletal muscle biopsy was 39.3 +/- 2.94 mmol/kg wet wt., which is not significantly different from non-CrT controls, n = 3 (43.3 +/- 3.57 mmol/kg wet wt.). We conclude that the brain appears to lack the ability to transport creatine when there is a mutation in the CrT gene. However, the muscle utilizes another mechanism for maintaining normal creatine levels. Identifying this alternative creatine-transport mechanism may be useful in treating the neurologic and cognitive impairments of patients with creatine-transporter deficiency.
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