Q:

A 3-year-old boy presented to emergency unit at 10:00 AM with history of difficult arousal from sleep,

Anwaar
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2022-09-12
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A 3-year-old boy presented to emergency unit at 10:00 AM with history of difficult arousal from sleep,lethargy, vomiting, and seizures; the mother stated that he had slept without having his supper. Fasting blood sugar was 38mg/dL and urinary ketone was low. Of the following, the MOST likely diagnosis is

  1. galactosemia
  2. propionic acidemia
  3. ketotic hypoglycemia
  4. hereditary fructose intolerance
  5. medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
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Anwaar
2022-09-12
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(E). MCAD; Previously undiagnosed affected patients usually present in the first 3 mo-5 yr of life with episodes of acute illness triggered by prolonged fasting (longer than 12-16 hr). During acute episodes of MCAD deficiency, hypoglycemia is usually present. Plasma and urinary ketone concentrations are inappropriately low (hypoketotic hypoglycemia).

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