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Creatine Deficiency Disorders (CDS)

Creatine deficiency disorders (CDS) are a series of genetic disorders caused by defects in creatine biosynthesis and utilization. Our company boasts a highly skilled team of researchers and scientists who possess extensive expertise in the study of CDS. This expertise serves as the cornerstone for the development of groundbreaking diagnostic tools and therapeutic drugs. As your reliable and trusted partner, we offer a comprehensive suite of services tailored to meet your specific scientific research requirements.

Introduction to CDS

CDS encompass a group of rare genetic conditions characterized by impaired creatine metabolism, leading to various neurological symptoms. These disorders disrupt the normal production, transport, or utilization of creatine, a crucial molecule involved in cellular energy metabolism. CDS primarily affect the brain, leading to developmental delays, intellectual disability, seizures, and other neurological manifestations.

There are multiple subtypes of CDS, including guanidinoacetate methyltransferase deficiency (GAMT), creatine transporter deficiency (CTD), and X-linked creatine deficiency (XLCD). Among them, CTD is the most common subtype of CDS and mainly affects men. The incidence of CTD is estimated to be approximately 1 in 40,000 to 60,000 men. GAMT is the rarest subtype of CDS, with an estimated incidence of approximately 1/1,000,000.

Pathogenesis of CDS

The pathogenesis of CDS is closely related to the metabolic process of creatine. Creatine is mainly synthesized in the liver and kidneys through the action of guanidinoacetate methyltransferase (GAMT) and arginine: glycine amidinotransferase (AGAT). In order to cross the blood-brain barrier, creatine also needs to be transported by a special transporter encoded by SLC6A8. Therefore, defects in both enzymes and transporters are responsible for CDS.

Fig.1 Metabolic pathways of creatine.Fig.1 Metabolic pathways of creatine. (Fernandes-Pires, et al. 2022)

The list of relationships between CDS subtypes and mutated genes is as follows:

Mutated Gene CDS Subtype Pathogenesis
AGAT CTD Lack the first enzyme (AGAT) necessary for creating creatine
GAMT GAMT Unable to break down the GAA formed in the first step of creatine synthesis
SLC6A8 XLCD Unable to transport creatine to the brain and muscles

Diagnostics Development of CDS

Biochemical testing helps measure the levels of creatine and related metabolites in the body. Test samples include urine, blood, or cerebrospinal fluid.

  • Creatine detection
  • Guanidinoacetate detection

Genetic analysis plays a vital role in confirming the specific subtype of CDS and identifying causative mutations, enabling personalized therapeutic strategies.

  • DNA sequencing
  • Gene: SLC6A8, AGAT, GAMT

Therapeutics Development of CDS

  • Creatine Supplementation Therapy
    Creatine supplementation is currently the most widely used therapeutic approach for CDS. It involves the administration of creatine or its precursor molecules to increase creatine levels in the body. This therapy aims to restore and maintain adequate creatine levels, supporting energy metabolism and neurotransmission in affected individuals.
  • Gene Therapy
    Gene therapy holds promise as a potential therapeutic approach for CDS caused by specific genetic mutations. In the case of GAMT deficiency or AGAT deficiency, gene therapy seeks to introduce functional GAMT or AGAT genes to enable the synthesis of creatine. Similarly, in CTD, gene therapy aims to deliver SLC6A8 genes to facilitate creatine uptake into cells.

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  • Fernandes-Pires, Gabriella, and Olivier Braissant. "Current and potential new treatment strategies for creatine deficiency syndromes." Molecular Genetics and Metabolism 135.1 (2022): 15-26.
  • Duran‐Trio, Lara, et al. "Creatine transporter–deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophy." Journal of Inherited Metabolic Disease 45.2 (2022): 278-291.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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