Q:

A 28-day-old girl presented with lethargy, poor feeding, and repeated vomiting for last 5 days;IV fluid and empiric alantibiotics were started

Anwaar
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2022-09-11
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A 28-day-old girl presented with lethargy, poor feeding, and repeated vomiting for last 5 days;IV fluid and empiric alantibiotics were started; later she develops repeated seizures not responding to IV calcium,glucose,36, and anticonvulsant drugs.Septic screen is negative; serum ammonia is elevated with normal anion gap and normal pH. Family history reveals 2 sibling sdied with same scenario. Of the following, the MOST likely diagnosis is

  1. galactosemia
  2. hyperglycinemia
  3. organic acidemias
  4. phenylketonurea
  5. urea cycle defects
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Anwaar
2022-09-11
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(E). Elevation of blood ammonia is usually caused by defects of urea cycle enzymes. Infants with elevated blood ammonia levels from urea cycle defects commonly have normal serum pH and bicarbonate values; without measurement of blood ammonia, they may remain undiagnosed and succumb to their disease

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