plasma ammonia level

Discussion in 'USMLE STEP 2 CS' started by Goodguy., Aug 30, 2008.

  1. Goodguy.

    Goodguy. Guest

    A 1-week-old newborn has had poor feeding, vomiting, and progressive lethargy over the past 4 days. She was born at term; pregnancy, labor, and delivery were uncomplicated, and she had no congenital anomalies. She is being breast-fed. She has a healthy 2-year-old brother; a sister died at 10 days of age after a full-term birth. Examination shows decreased muscle tone and poor responsiveness; reflexes are normal. Serum bicarbonate level is 8 mEq/L, pH is 7.15, and plasma ammonia level is 10 times the upper limit of normal. Which of the following is the most likely cause?

    A) Mitochondrial disorder

    B) Mucopolysaccharidoses disorder

    C) Organic acid metabolism disorder

    D) Renal tubular acidosis

    E) X-linked leukodystrophy
  2. Guest

    Guest Guest

    C) Organic acid metabolism disorder

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