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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.
posted on
Thu, 13 Mar 2014
Medically reviewed by
Ask A Doctor - 24x7 Medical Review Team
Sun, 1 Sep 2019
Answered on
Wed, 4 Sep 2019
Last reviewed on
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
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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