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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What causes seizures,lethargy and fatigue?

Can you name an illness that mimics pyruvate carboxylase deficiency in terms of symptoms (minus mental developmental delays)? My 2-year old and 4-year old are both sick -- seizures, lethargy, fatigue. The 2-year old also has physical developmental delay, hypotonia, abnormal urinary odor, hypoglycemia and unformed stools. At one point the 2-year olds lab results showed elevated pyruvate. The 4-year old also has skin rash and alopecia and at one point had low thyroid function. No diagnosis to date.
Wed, 4 Sep 2019
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Pediatrician 's  Response
Hi,

The above condition May be seen in biotinidase deficiency. Biotinidase deficiency is treated with oral biotin (vitamin H, coenzyme R, part of vitamin B complex) supplements. Treatment should begin as soon as the diagnosis is made. With biotin treatment, symptoms of the disorder may disappear.

Hope I have answered your query. Let me know if I can assist you further.

Regards,
Dr. Rajmohan, Pediatrician
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