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. A 1-week-old newborn has had poor feeding,
progressive lethargy over the past 4 days. She was
born at term; pregnancy,
labor, and delivery were uncomplicated, and she had no
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.
shows decreased muscle tone and poor responsiveness;
reflexes are normal.
Serum bicarbonate level is 8 mEq/L, pH is 7.15, and
level is 10 times the upper limit of normal. Which of
the following is the
most likely cause?
) Mitochondrial disorder
) Mucopolysaccharidoses disorder
) Organic acid metabolism disorder
) Renal tubular acidosis
e, x linked leukodistrophy
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