Q:

All the following are recognized laboratory findings of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency EXCEPT

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All the following are recognized laboratory findings of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency EXCEPT


  1. hypoglycemia
  2. hypoketonuria
  3. hypoketonemia
  4. metabolic acidosis
  5. elevated liver enzyme

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(D). During acute episodes of MCAD deficiency, hypoglycemia is usually present. Plasma and urinary ketone concentrations are inappropriately low (hypoketotic hypoglycemia). Because of the hypoketonemia, there is little or no metabolic acidosis, which is expected to be present in many children with hypoglycemia

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