Unfortunately, Creatine Deficiencies are often misdiagnosed.

Welcome to the Association for Creatine Deficiencies (ACD),
an organization dedicated to the three Creatine Deficiency Syndromes:

If your child carries an Autism diagnosis, please consider:

  • Asking your physician to run an Autism blood panel. Many laboratories now run Autism panels which screen for an array of genetic disorders that are linked to Autism Spectrum Disorders. Some of these disorders may respond to treatment so early detection and intervention are critical.
  • Requesting your physician to seek out a laboratory that includes SLC-6A8/ CTD, GAMT and AGAT on metabolic, epilepsy, and/or Autism panels. Some laboratories that test are, but not limited to, Baylor College of Medicine, ARUP, InVitae, Courtagen, MEDomics, LLC, Ambry Genetics, Medical Neurogenetics, LLC, CentoMD (Europe), Congenica Ltd (Eurpoe).

Common misdiagnosis may include:

  • Autism Spectrum Disorder
  • Developmental Delay/Disability
  • Epilepsy
  • Mitochondrial Disorder
  • Cerebral Palsy
  • Movement Disorder
  • Gastrointestinal Disorder

It is encouraged that patients with any of the symptoms below be screened for a Creatine Deficiency:

  • Developmental delay
  • Hypotonia
  • Movement Disorders
  • Feeding Intolerances
  • Hyperactivity
  • Speech & Language Delay
  • Seizures
  • Autistic-Like Behavior

Proper diagnosis and early intervention are critical to establish treatments needed to improve life quality and longevity of the CDS patient. Suspicion of CDS may also increase if there are siblings with any of the above symptoms.

Please contact us if you would like more information at: info@creatineinfo.org or visit our Facebook Page.

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