The Association for Creatine Deficiencies is a non-profit organization committed to providing patient, family, and public education to advocate for early intervention through newborn screening, and to promote and fund medical research for treatments and cures for cerebral creatine deficiency syndromes.
Cerebral Creatine Deficiency Syndromes (CCDS) are inborn errors of metabolism, which interrupt the formation or transportation of creatine. Creatine is necessary to increase adenosine triphosphate (ATP), which provides energy to all the cells in the body. Creatine is essential to sustain the high energy levels needed for muscle and brain development.
THERE ARE THREE CEREBRAL CREATINE DEFICIENCY SYNDROMES:
- Creatine Transporter Deficiency (CTD)
- Guanidinoacetate Methyltransferase Deficiency (GAMT)
- Arginine: Glycine Amidinotransferase Deficiency (AGAT)
SYMPTOMS
Symptoms can include, but are not limited to: developmental delay, hypotonia, movement disorders, feeding intolerances, hyperactivity, expressive speech delay, language delay, seizures, or autistic-like behavior. It is encouraged that an individual with any of these presentations be screened for CCDS as early as possible. Click here for screening information.
CCDS patients are frequently misdiagnosed with cerebral palsy as infants and as toddlers. Also, as autism or developmental delay in children.
PREVALENCE
The exact prevalence of Cerebral Creatine Deficiency Syndromes is unknown. Yet, sources estimate that approximately 1% of individuals with intellectual disabilities of unknown origin may have a Cerebral Creatine Deficiency Syndrome. It is also estimated that Creatine Transporter Deficiency (CTD) represents the second largest cause of x-linked mental disability behind Fragile X syndrome.
Company Details
- Employees
- 17
- Founded
- -
- Address
- 6965 El Camino Real,
- Industry
- Research Services
- NAICS
-
Scientific Research and Development ServicesResearch and Development in the Physical, Engineering, and Life SciencesResearch and Development in the Physical, Engineering, and Life Sciences (except Nanotechnology and Biotechnology)
- Website
- creatineinfo.org
- HQ
- Carlsbad, California
Association For Creatine Deficiencies Questions
Association For Creatine Deficiencies's website is creatineinfo.org
Association For Creatine Deficiencies's LinkedIn profile is https://www.linkedin.com/company/association-for-creatine-deficiencies
Association For Creatine Deficiencies has
17 employees.
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Association For Creatine Deficiencies's industry is
Research Services
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Association For Creatine Deficiencies's categories are Research Services
Association For Creatine Deficiencies's founding year is 2012
