Who Should be Tested?
The CCDS are inborn errors of metabolism affecting the synthesis and transport of creatine. Early diagnosis of these disorders is essential for prompt initiation of treatment and improved outcomes.
While there is variability in clinical severity and presentation in children with CCDS, the following symptoms are commonly observed in untreated patients.
- Global developmental delay affects all children with these disorders. It may be the first sign, appearing before other symptoms.
- Speech delay may be particularly severe and is present in all affected children. Many individuals develop no speech, or speak only in single words.
- Intellectual disability of variable severity is typically present in all older children and adults.
- Seizure disorders have a variable age of onset and severity, and are not always present.
- Hypotonia, muscle weakness and muscle hypotrophy are common.
- Behavior disorders including autism-like behaviors and hyperactivity
- Movement disorder including dystonia and dyskinesia (sometimes labeled as cerebral palsy)
- Gastrointestinal problems such as chronic constipation, vomiting
- Failure to thrive
- Dysmorphic features, such as mid-face hypoplasia, are more often found in people with creatine transporter deficiency.