This visual image of myoglobinuria comes from a man who describes himself as a visual person. Ironically, for most of his life, Jeff has known the reddish-brown sediment of myoglobin only by sight, not by name. 

A protein which facilitates the diffusion of oxygen to the muscle mitochondria, myoglobin is released from skeletal muscle cells when they are damaged and is quickly filtered into urine by the kidneys. Myoglobinuria may occur following muscular activity, trauma or as a result of a deficiency of certain muscle enzymes. 

Jeff fits this classic description. “When I was maybe three, I’d been playing on the beach and my mother said I just wouldn’t walk anymore.” Throughout childhood, his mother took him to the pediatrician several times a year with episodes of severe muscle cramping, but no one ever noticed the dark urine. “As I grew older, I thought it was lactic acid buildup. I got used to seeing it.”

In high school Jeff was on the golf team and the track team. But for him, walking 18 holes was harder than running the 300 yard dash. Many times he invented excuses to explain why he couldn’t finish the round of golf. Usually he’d say he wasn’t playing well enough, which led to arguments with his friends. “It was like a dirty little secret,” he recalls. “I tried to share what was happening with my best friends, but they just didn’t get it. It was a lonely world that way.”

It wasn’t until 1996 that he heard the word myoglobinuria and then it was courtesy of a bad case of bronchitis. Jeff was 35, married, and the father of two children when a day of incredibly bad coughing and a night of little sleep sent him to the emergency room, unable to breathe. “I could barely move, I was so cramped at that point, especially my diaphragm. I couldn’t even lie down because it felt like people were standing on my chest.” Initially, the physicians on duty were puzzled until they saw the red flags in his urine specimen.

“Oh, that’s not a problem,” Jeff insisted. “I’ve had that all my life. Just help me breathe.” 

“No, no, no,” they replied, “we have to find out what’s going on with the urine.” 

Myoglobin becomes visible in urine when present at concentrations exceeding 100 mg. per liter. Due to its low molecular weight, it is released more rapidly than other markers of muscle damage such as CK (creatine kinase). Dipstick testing or, more sensitively, radio-immunoassay can verify its presence. 

Once the sediment in Jeff‘s urine was identified as myoglobin, his doctors ordered a muscle biopsy which confirmed what was suspected: carnitine palmitoyltransferase II deficiency. Jeff's residual enzyme level was 25% of normal. Before diagnosis Jeff estimates he had over 100 episodes of myoglobinuria. Since diagnosis, none.

Jeff still has episodes of severe shakiness if he goes longer than three or four hours without eating, but he stays active. “The stronger I am, the wider the latitude before attacks,” he says. (For more about his diet, visit Liquid assets and Body work.)

Other than long mountain climbs, Jeff doesn‘t deny himself much. “Last weekend I rode my bike six miles with my kids. I took a can of soda, some water, and peanut butter crackers. When I came home, I played volleyball in the pool for two hours. I was happy with that day.”

Jeff says the better he deals with his muscle disorder, the less space it occupies in his life. “It’s baggage I carry around,” he acknowledges, “but I can carry it in my pocket instead of on my back.”