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.
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.
Dr. Rajmohan, Pediatrician
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