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Creatine Deficiency
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Creatine Deficiency Syndrome Symptoms
Creatine deficiency was completely unheard of and unknown before 1994 and the reason why this was not known to medical science up until that point is that it had never been specifically studied. But with the very successful launch of creatine in 1993 a whole lot more research started to go into this wonder supplement.
There are quite a few different types of creatine deficiencies that one can get but we will be concentrating only on the X-linked deficiency of creatine in this article. The complex description required to explain guanidinoacetate methyltransferase (GAMT) and glycine amidinotransferase (AGAT) deficiency will take a lot more than just a brief article on the symptoms.
Whatever the different causes of the creatine deficiency might be there is a very long list of well recorded and well documented ways of identifying the symptoms of creatine deficiency which is what this article is all about to enable the average person to be in a position to recognize any of these symptoms and have it checked out.
X-linked creatine deficiency has been identified as an inherited disorder which generally affects the brain. Individuals with this condition have an intellectual disability that can range from mild to very severe resulting in delayed speech development.
There are even a few recorded cases where speech development was halted completely which is why it was investigated. There are some affected individuals who also develop behavioural disorders related to ADD (attention deficit disorder) as well as attention deficit hyperactivity disorder also called general autistic behaviours that often affect communication and any social interaction the affected individual may attempt.
It was shown that generally the people who were isolated as having a creatine deficiency that was X-linked also may also experience unpredictable convulsive seizures. Children with the X-linked creatine deficiency also will more than likely experience a slow growth and more importantly exhibit a delayed development of simple motor skills like sitting and walking. Most of the affected individuals studied also tend to tire easily.
As if that was not enough to deal with there was also shown that in some of the creatine deficient patients studied that some of them also had additional signs and symptoms that included abnormal heart rhythms, and also an unusually small head called microcephaly.
Some of the X-linked deficiency patients studied also showed distinctive facial features such as an unusually broad forehead and a flat or sunken appearance of the middle of the face called mid-face hypoplasia.
Below is the long list of symptoms that have been identified as being the first point of recognition which leads to diagnoses.
Potential mental slowness and retardation
Fits and seizures
Short people
Under developed around the middle of the face
Retarded or delayed developmental
A reduction in muscle tone
Behavioural symptoms that limit improvement
Delayed speech
Permanent or chronic constipation
Mega-colon
Duodenal ulcers
Gastric ulcers
Failure to thrive
Recurring vomiting
Motor delay
Impaired hand-eye coordination
Droopy eyelids
Open hanging mouth
Constipation
Poor feeding
Vomiting
Poor hand-eye coordination
Autistic behaviours
Stereotypical motor behaviours
Impaired social interaction
Ileus
Hyper-extensible joints
Stub thumb
Severe speech delay
Small head
Exotropia
Hyper-metropia
Severe language delay
Increased urinary intake
Increased plasma creating