Last reviewed dd mmm yyyy. Last edited dd mmm yyyy
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.
Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.