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Creatine deficiency syndrome
My son is diagnosed with creatine deficiency syndrome , is this curable or medications available.
Does Occupational therapy works for this, still he didn't not walk and not able to understand our simple actions and didn't speak yet
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Dr Faisal Zoheb
MBBS , MD PAEDIATRICS , PGPN (BOSTON), Neonatology fellow ( Newborn and vaccination specialist )
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Creatine deficiency syndrome is a rare brain metabolic disorder causing delay in walking, speech, and understanding. It is not always curable, and outcome depends on the type—GAMT/AGAT deficiency are treatable with creatine supplementation (only under specialist advice), while creatine transporter deficiency has limited treatment.
There is no over-the-counter curative medicine; supplements like creatine may be used only after pediatric neurologist guidance.
Occupational therapy, speech therapy, and physiotherapy are very important and can significantly improve your child’s development. Early intervention is the key, so continue therapy and follow up with a specialist regularly.
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Dr. Tangade Vishal Bhanudas
Pediatrician
4 yrs exp
Pune
Visit physically to nearby pediatrician.
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Dr. Bhatt Vivek Prafulchandra
Pediatrician
5 yrs exp
Rajkot
Consult with Pediatrician physically for further evaluation and treatment
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Dr. Venkatesh Badugu
Pediatrician
9 yrs exp
Hyderabad
Yes along with Occupational therapy needs medical treatment also
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Disclaimer : The content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding your medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.