Carnitine palmitoyl transferase deficiency is a rare autosomal recessive
disorder which usually presents with in skelaetal muscle in adolescence or
later. Rhabdomyolysis and myoglobinuria can result, especially after exercise
as CPT is the enzyme which controls the entry of fatty acids into the
mitochondrion for betaoxidation. There is also a hepatic form which is more
severe and usually presents in infancy. I think that most cases of muscle CPT
deficiency are of CPTII (there are two isoforms of this enzyme, CPTIin the
outer mitochondrial membrane and CPTII in the inner) and an Italian group has
identified the mutation responsible for this disorder. I'm writing all this
from memory but can provide you with the references if necessary. Treatment of
CPT deficiency probably consiusts of avoidance of high-fat diets, possibly
supplemented with medium-chain fatty acids and plent of carbohydrates during
exercise. However, I would definitely consult a specialist about this!
Professor Douglass Turnbull, in the Division of Clinical Neuroscience in the
University Of Newcastle would be able to advise you on diagnosis and/or
treatments.
