Maple Syrup Disease

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donnajane

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Does anyone know much about Maple Syrup Disease. At my 2yr olds appointment with his Paed last week she mentioned it as something his Metabolic Specialist said she was considering looking into in her last letter to the Paed. His Paed said she couldn't really "see" him as having it but it was one of the things they were looking into. I have looked up on line re it but like everything else my little man has some of the symptoms but not all of them.

Just curious if anyone has any knowledge of it.

Donna
 
It's another one of those rare inherited metabolic disorders. A lot of his symptoms seem to line up with them, though never 100% as you've noted. And I imagine there's no history of anything similar in your family, right?
 
No no history but we have been told that thats not unusual as my husband parents both imigrated to Australia and we have little knowledge of their medical history and also it could have been passed down through generations as carriers without anyone actually getting the disease.
I suppose the metabolic team have to rule things out.
 
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