"Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child


We describe a 6-year-old girl admitted with acute muscular weakness and pain which made her unable to walk. Her parents reported a 4-year history of similar episodes which occurred once or twice a year and always resolved spontaneously. Laboratory investigations showed elevated serum creatine kinase which peaked at day 2 of the attack with 18,600 U/l… (More)
DOI: 10.1007/s004310100802