Association For Creatine Deficiencies
Research, 6965 El Camino Real, Carlsbad, California, 92009, United States, 11-50 Employees
Phone Number: +19*********
Who is ASSOCIATION FOR CREATINE DEFICIENCIES
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 scre...
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Headquarters: 6965 El Camino Real, Carlsbad, California, 92009, United States
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Date Founded: 2012
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Employees: 11-50
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Revenue: Under $1 Million
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Active Tech Stack: See technologies
Industry: Research
SIC Code: 7361
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Frequently Asked Questions Regarding Association for Creatine Deficiencies
Answer: Association for Creatine Deficiencies's headquarters are located at 6965 El Camino Real, Carlsbad, California, 92009, United States
Answer: Association for Creatine Deficiencies's phone number is +19*********
Answer: Association for Creatine Deficiencies's official website is https://creatineinfo.org
Answer: Association for Creatine Deficiencies's revenue is Under $1 Million
Answer: Association for Creatine Deficiencies's SIC: 7361
Answer: Association for Creatine Deficiencies has 11-50 employees
Answer: Association for Creatine Deficiencies is in Research
Answer: Association for Creatine Deficiencies contact info: Phone number: +19********* Website: https://creatineinfo.org
Answer: 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.
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