carnitine palmityltransferase deficiency
Last reviewed 01/2018
This is a deficiency of carnitine palmityltransferase, the enzyme which controls the entry of long-chain fatty acids into the mitochondria.
The enzyme deficiency can be confirmed via biochemical assay performed on a muscle sample (or peripheral blood sample).
Treatment is by avoidance of precipitants. No specific treatment is, as yet, available.
Prognosis is good if the myoglobulinuria is not so severe as to cause renal failure and as long as precipitants are avoided.