Association for Creatine Deficiencies

The Association for Creatine Deficiencies (ACD) is a nonprofit organization based in the United States dedicated to raising awareness, providing education, and advocating for individuals affected by cerebral creatine deficiency syndromes (CCDS). Established to support patients and families dealing with these rare genetic disorders, the ACD emphasizes the importance of early diagnosis and effective management.

Mission and Objectives

The organization's mission focuses on several key areas:

• Education: The ACD aims to provide comprehensive information to patients, families, and the general public about CCDS, including their symptoms, diagnosis, and treatment options.

• Advocacy: The organization advocates for early detection and intervention strategies, emphasizing the necessity of recognizing symptoms that often lead to misdiagnosis.

• Research Support: ACD promotes and funds medical research aimed at developing treatments and potential cures for CCDS. This aspect of their mission is vital, as current treatment options are limited and largely depend on creatine supplementation.

Cerebral Creatine Deficiency Syndromes (CCDS)

CCDS are a group of rare inherited disorders caused by deficiencies in creatine synthesis or transport. The three primary types include:

• Creatine Transporter Deficiency (CTD): An X-linked disorder resulting from mutations in the SLC6A8 gene, leading to severe neurological impairments, including intellectual disability and developmental delays.

• Arginine:Glycine Amidinotransferase Deficiency (AGAT deficiency): This autosomal recessive disorder results in low creatine levels due to a defect in the GATM gene.

• Guanidinoacetate Methyltransferase Deficiency (GAMT deficiency): Also inherited in an autosomal recessive manner, this disorder is caused by mutations in the GAMT gene, affecting the body's ability to produce creatine.

These conditions can lead to significant developmental challenges, making the ACD's work critical in providing resources and support for affected families.

Organizational Structure

The leadership of the ACD comprises dedicated individuals with varying expertise, enabling a well-rounded approach to their mission. Key members include:

• Dan Coller: Serving as one of the prominent leaders.
• Erin Coller: Another key figure in the organization's efforts.
• Celeste Graham, Kim Tuminello, Mikelle Law, Jenny Lin, and Randy Allen also hold important positions within the organization.

Conclusion

The Association for Creatine Deficiencies plays a crucial role in the advocacy and support for families affected by CCDS. Through education, research, and concerted efforts to promote early diagnosis, the ACD is committed to improving the lives of those impacted by these rare but serious disorders.