Creatine deficiency syndrome

2026-04-02 16:24:06
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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I need to ask few more questions before answering your query. Early consultations can prevent complications. Kindly contact me on whatsapp chat  (84960595 six five) Dr Faisal Zoheb MBBS , MD PAEDIATRICS , PGPN (BOSTON), Neonatology fellow ( Newborn and vaccination specialist )

Answered2026-04-06 02:08:11

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Visit physically to nearby pediatrician.

Answered2026-04-05 06:55:20

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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.

Answered2026-04-03 12:13:44

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Consult with Pediatrician physically for further evaluation and treatment

Answered2026-04-04 04:02:39

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Yes along with Occupational therapy needs medical treatment also

Answered2026-04-03 12:58:26

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