doc-o8
Forum Elite
Topics: 32
Posts: 414
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24. 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
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| young_doc
Forum Guru
Topics: 56
Posts: 735
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I guessed B?
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| prasannakumar
Forum Senior
Topics: 24
Posts: 55
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A
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| alosh_2
Forum Junior
Topics: 22
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I think B as well
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| sandra
Forum Guru
Topics: 201
Posts: 470
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c
http://www.idph.state.il.us/HealthWellness/fs/org...
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| haduytu7
Forum Newbie
Topics: 2
Posts: 24
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C. disorder in urea cycle: Carbamoyl phosphate synthetase deficiency or Ornithine transcarbamoylase deficiency. (Kaplan Medessentials p.47)
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