2.3. Summary of this section's learning objectives

A female infant was born at 40 weeks gestation by normal vaginal delivery with a birth weight of 3.9kg. There were no neonatal problems and she was discharged home with her mother at 24 hours. She was initially breast fed but after 6 weeks she was changed to a standard milk formula feed. From that time she started having episodes of vomiting and her weight gain was poor. Cow's milk protein intolerance was suspected and she was changed to a soya milk preparation but without improvement. At 4 months she was admitted to hospital with a 4 day history of becoming increasingly lethargic. On examination she is sleepy but rousable. She is visually alert but not smiling. Her liver is palpable at 4 cm below the right costal margin. Her pulse is 100/min, respiratory rate 30/min and capillary refill time (CRT) 2 seconds. Her weight is 5.8 kg.

Summary of this section's learning objectives:

You should now have a full understanding of the following:

  1. the clinical presentation of hyperammonaemia
  2. disorders that can cause hyperammonaemia
  3. investigations necessary for diagnosis and interpretation of the results
  4. extra-corporeal treatment
  5. use of scavenger medication