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Carnitine deficiency and elevated ammonia levels
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Carnitine deficiency and elevated ammonia levels

I'm a 29year old female with no prior history of lung or heart disorders. I've never smoked. I've always been extremely athletic. Before April 2010, I would work out 4 hrs a day doing varies training regiments. I would run over 20miles/week plus train muay thai and rock climb. I'm 5'6" and I've always been around 130-135lbs.
In April 2010, I was unable to walk to the kitchen w/SOB (gain 20lbs), chest pains, dizzy, HR <46 and fatigue.  I saw a cardiologist, my stress test showed oxygen levels < 88%. I had a PFT test, which showed decreased DLco (77%) and lung volumes (86%). The pulmonary specialist told me that my lung volumes are too low for an athlete. My echo showed increased pulmonary pressures (20-30mm/Hg) in 3 months. I have mild mitral, trucspid, pulmonic value regurgitation. My pressures where 46mm/Hg during exertion ~mild pulmonary hypertension. My cardiologist doesn't believe the mild PH is what's causing my symptoms. The cardiologist thinks its a neuromuscular disease. The neurologist found my carnitine levels are low and my ammonia is high. My great grandmother passed away from muscular dystrophy (not sure if it's important). If you are deficient in carnitine does that mean you have the metabolic muscular disease?

Could the low carnitine levels explain the mild pulmonary hypertension which in turns explains the decreased diffusion capacity? Could it explain all the symptoms? From what I read carnitine deficiency can cause heart problems, liver problems (had elevated liver enzymes resulting in removal of gallbladder), rhabdomyolysis (hospitalized in 2009), cognitive problems(now), and the muscle weakness occurring after working out.

My symptoms while and after working out: dizziness, fatigue, confusion, disorientation, swelling in lower extremities (exercise), chills, chest pain, tingling in left arm up to neck and jaw, severe muscle cramps and spasms, nausea, sometimes vomiting, and extreme SOB. My symptoms used to only last 2hrs after exercise and now have lasting any where from 2hrs to the whole next day. Symptoms slightly getting better after L-carnitine supplements.
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Any tests you suggest getting done to verify the disorder? Or if you are deficient it means you have the metabolic disorder? Could you suggest a specialist to see to get adequate treatment? Or should I stay with a neurologist?

Thanks for any help you can give me.
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500238_tn?1255134814
You need to see a metabolic geneticist for this issue.  Carnitine deficiency is very rare.  I have it as well and 90 percent of doctors have no clue what it is.  It does usually improve with supplementation and if you can tolerate the aceytl-L carnitine, you should take it.  I would search the internet for doctors in your area who are familiar with this disease.  Otherwise, you will get a lot of blank stares and doctors who think you are saying "keratin" deficiency.  It is a serious condition that needs treatment and monitoring.  Yes, it could be related to a muscular dystrophy or other diseases depending on whether it is primary carnitine deficiency or secondary.  Secondary means there is something else that is causing the deficiency.  Primary is due to a genetic defect.
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500238_tn?1255134814
You need to have a carnitine panel, urine amino acids, urine organic acids, plasma amino, CBC and a CMP.
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