1-day history of poor feeding, vomiting, and lethargy. Physi

Discussion in 'USMLE Step 2 CK' started by Jenny, Jun 20, 2008.

  1. Jenny

    Jenny Guest

    A 5-day-old female newborn who is breast-fed is brought to the emergency department because of a 1-day history of poor feeding, vomiting, and lethargy. Physical examination shows decreased responsiveness, hypotonia, and dehydration. There is a caramel-like odor in the diaper. Serum studies show a decreased glucose concentration, ketones, and metabolic acidosis. Metabolic studies of leukocytes show no conversion of [14C] leucine to 14CO2. An increased plasma concentration of which of the following substances is most likely in this patient?

    A ) Alanine
    B ) Isovaleric acid
    C ) Methylmalonic acid
    D ) Phenylalanine
    E ) Propionic acid
    F ) Valine

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