Creatine Transporter Deficiency
Synonyms
4
Overview
Creatine Transporter Deficiency is a rare x-linked inborn error of creatine metabolism, broadly classified as an Autism Spectrum Disorder and form of x-linked mental retardation (XLMR). CTD is caused by a defect in the SLC6A8 gene that encodes the creatine transporter protein necessary for the transport of creatine across the blood-brain barrier and across cell membranes. Creatine is taken into cells via the creatine transporter, where it plays an essential role in energy homeostasis, particularly for tissues with high and fluctuating energy demands, such as neurons. Simply put, patients with CTD lack creatine in the brain, which is an essential component of the energy system, and as a result the brain does not have the energy to function properly. This lack of energy results in the symptoms associated with CTD.
Symptoms
The list of signs and symptoms mentioned in various sources for Creatine deficiency, X-linked includes the 46 symptoms listed below:
- Mental retardation
- Seizures
- Short stature
- Underdeveloped midface
- Developmental delay
- Reduced muscle tone
- Behavioral problems
- Speech delay
- Chronic constipation
- Megacolon
- Duodenal ulcers
- Gastric ulcers
- Failure to thrive
- Recurring vomiting
- Motor delay
- Impaired hand-eye coordination
- Droopy eyelids
- Open hanging mouth
- Poor hand-eye coordinations
- Autistic behaviours
- Stereotypical motor behaviors
- Impaired social interaction
- Ileus
- Hyperextensible joints
- Stub thumb
- Developmental Motor delay
- Mental retardation
- Failure to thrive
- Small head
- Exotropia
- Hypermetropia
- Increased urinary intake
- Increased plasma creation
Diagnosis
These home medical tests may be relevant to Creatine deficiency, X-linked:
Bladder & Urinary Health: Home Testing:
- Home Bladder Tests
- Home Urinary Tract Infection (UTI) Tests
- Home Cystitis Tests o Home Kidney Tests
- Home Urine Protein Tests (Kidney Function) o
- Home Prostate Cancer Tests
- Kidney Health: Home Testing:
- Home Microalbumin Tests (Kidney)
- Home Urine Protein Tests (Kidney)
- Home Urinary Tract Infection (UTI) Tests