McArdle Disease medical overview
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LAB RESULTS
Blood
URATE
Urate levels are often raised in people with McArdle’s, due to increased purine metabolism [1].
There is an increased rate of gout amongst McArdle people compared to the rest of the population [2]. (Approx. 10% compared to 3%.)
Renal stones of uric acid crystals and calcium oxalate can be instigated by raised urate levels [3].
LIVER ENZYMES
Routine screening for unrelated matters may reveal, in people with McArdle’s, mildly elevated levels of the liver enzymes ALT and AST [4].
These enzymes are released into the blood when skeletal muscle is damaged [5] and is normally not a matter for concern regarding the liver.
Further investigation may be indicated if the ALT or AST levels are grossly raised and remain so.
Further investigation is also indicated if the ALP or bilirubin levels are significantly raised.
[1] See page 7, reference [2].
[2] See page 7, reference [3].
[3] Kidney stones: pathophysiology and medical management. Orson W Moe. (2006) Lancet; 367: 333–44.
[4] McArdle’s disease: case report and review of the literature. Tuzun A et al. (2002) Turk J Gastroenterol 13: 56-59.
[5] Serum Alanine Aminotransferase in Skeletal Muscle Diseases. (2005)
Rahul A et al. Hepatology, Volume 41, Issue 2.
Urine
If urine test strip shows blood (hemoglobin) or protein, consider whether this is in fact myoglobin which is often present in McArdle’s.
McArdle Disease Medical Overview
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