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Association for Creatine Deficiencies

Association for Creatine Deficiencies


Association for Creatine Deficiencies' financial review

Employees

13


Association for Creatine Deficiencies information

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 th...
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)SYMPTOMSSymptoms 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.PREVALENCEThe 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.

Association for Creatine Deficiencies industries

Rare diseases
Patient advocacy
Medical research
Research

Association for Creatine Deficiencies' financial review

Employees

13

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