Deficiencies in the conversion of Pyruvate to Acetyl CoA may result in severe neurological developmental defects in children.  A child presents with these symptoms.  Tests reveal that this child has abnormally high levels of Pyruvate in mitochondria and low levels of Hydroxyethyl TPP.    What is your diagnosis on the specific enzyme deficiency in this child that may be causing the symptoms

Human Anatomy & Physiology (11th Edition)
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Deficiencies in the conversion of Pyruvate to Acetyl CoA may result in severe neurological developmental defects in children.  A child presents with these symptoms.  Tests reveal that this child has abnormally high levels of Pyruvate in mitochondria and low levels of Hydroxyethyl TPP. 

 

  • What is your diagnosis on the specific enzyme deficiency in this child that may be causing the symptoms

 

  • Explain in 3 – 5 sentences
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