Among creatine deficiency syndromes, an X-linked condition related to a defective creatine transport into the central nervous system has been described recently. Hallmarks of the disease are the absence of a creatine signal at brain spectroscopy, increased creatine levels in blood and urine, ineffectiveness of oral supplementation, and a mutation in the SLC6A8 (Online Mendelian Inheritance in Man [OMIM] 300036) creatine transporter gene. We report on a patient in whom a novel mutation (1221-1223delTTC) was identified.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ana.10246 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Effect of 2-Aminoethoxydiphenyl Borate on the State of Skeletal Muscles in Dystrophin-Deficient Mice.
Front Biosci (Landmark Ed)
December 2024
Department of Biochemistry, Cell Biology and Microbiology, Mari State University, 424001 Yoshkar-Ola, Russia.
Objective: Ca overload of muscle fibers is one of the factors that secondarily aggravate the development of Duchenne muscular dystrophy (DMD). The purpose of this study is to evaluate the effects of the Ca channel modulator 2-aminoethoxydiphenyl borate (APB) on skeletal muscle pathology in dystrophin-deficient mice.
Methods: Mice were randomly divided into six groups: wild type (WT), WT+3 mg/kg APB, WT+10 mg/kg APB, , +3 mg/kg APB, +10 mg/kg APB.
Achieving High Standards in Clinical Biochemistry: Integrating Six Sigma, Quality Goal Index (QGI), and Operating Specifications (OPSpecs) for Targeted Quality Enhancement.
Cureus
November 2024
Department of Biochemistry, Pramukhswami Medical College, Bhaikaka University, Anand, IND.
Background Sigma metrics, a cornerstone of quality control (QC) in manufacturing, have been increasingly adopted in analytical processes. In clinical biochemistry labs, Sigma analysis provides insights into the level of QC achieved and identifies deviations from perfection. Methods A prospective-retrospective observational study was conducted at the Central Diagnostic Laboratory of Shree Krishna Hospital between August 2021 and July 2022.
View Article and Find Full Text PDFDodecyl creatine ester, a promising treatment to deliver creatine to neurons, achieves pharmacology efficacy in creatine transporter deficiency.
Eur J Med Chem
December 2024
CERES BRAIN Therapeutics, Paris, France. Electronic address:
Dodecyl creatine ester (DCE) is a creatine prodrug currently developed for brain diseases, including creatine transporter deficiency (CTD), an incurable rare genetic disease. A dual strategy combining a prodrug to bypass the non-functional creatine transporter and its delivery via the nose-to-brain pathway has been proposed to replenish creatine levels in cerebral cells, particularly in neurons of CTD patients. In vitro and in vivo studies in various animal models, including wild-type non-human primates and creatine transporter deficient mice, show that formulated DCE, when administered intranasally, achieves significant cerebral distribution up to the target cells, the neurons, and modulates the expression of neuronal markers related to cognitive function at doses intended for patients.
View Article and Find Full Text PDFIntratesticular creatine maintains spermatogenesis by defining tight junctions.
Sci Rep
December 2024
Department of Urology, Osaka University Graduate School of Medicine, Suita, 565-0871, Osaka, Japan.
One in five couples who wish to conceive is infertile, and half of these couples have male infertility. However, the causes of male infertility are still largely unknown. Creatine is stored in the body as an energy buffer, and the testes are its second-largest reservoir after muscles.
View Article and Find Full Text PDFPrebiotics and iron fortification among women of reproductive age group - Is there an association with liver and renal function tests?
Cell Mol Biol (Noisy-le-grand)
November 2024
Department of Nutrition & Dietetics, National University of Medical Sciences, Rawalpindi, Pakistan.
Iron fortification compounds are of special interest to treat iron deficiency anemia, however, the dose-response effects of these fortificants on liver and renal functions have not been extensively reported in human subjects. The present study determines the effects of prebiotics and iron fortificants on liver function tests (LFTs) and renal function tests (RFTs) among women of reproductive age (WRA). A double-blind randomized controlled trial was performed for the duration of 90 days.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!