02-19-2007, 05:30 PM
A 5-month-old female infant was the product of an uncomplicated pregnancy and was born at term. However, the baby has failure to thrive. On physical examination there is clitoral hypertrophy and poor skin turgor. The baby appears neurologically normal. Laboratory studies show sodium 116 mmol/L, potassium 3.2 mmol/L, chloride 83 mmol/L, and CO2 22 mmol/L. There is no history of diarrhea or vomiting. Which of the following inborn errors of metabolism is this infant most likely to have?
A 21-hydroxylase deficiency
B Phenylalanine transferase deficiency
C Galactose-1-uridyl transferease deficiency
D Glucose-6-phosphatase deficiency
E Iodine peroxidase deficiency
A 21-hydroxylase deficiency
B Phenylalanine transferase deficiency
C Galactose-1-uridyl transferease deficiency
D Glucose-6-phosphatase deficiency
E Iodine peroxidase deficiency