Myoadenylate Deaminase Deficiency
Myoadenylate Deaminase Deficiency Causes
MADD is as a recessive genetic metabolic disorder.
Myoadenylate Deaminase Deficiency Definition
Myoadenylate Deaminase Deficiency or MADD is classified as a metabolic disorder with a recessive genetic cause. This condition affects about 1-2% of the Eastern descent populations which makes it not particularly a rare disease. MADD is somewhat rarer in the Oriental populations. Myoadenylate Deaminase which is also referred to as AMP deaminase is an enzyme responsible in converting adenosine monophosphate or AMP into inosine monophosphate or IMP. This process frees ammonia molecule. This is a portion of metabolic process responsible in converting sugar, fat and protein to cellular energy. A cell usually converts sugar, fat and protein to adenosine triphosphate (ATP) through the mitochondria to utilize energy. Processes within the cell, the muscles in particular then convert ATP to adenosine diphosphate or ADP which frees the energy to perform work. Failure to deaminate AMP molecules covers three major effects which are: 1. The cell and body loses considerable amounts of AMP 2. Ammonia is not freed or released in the event that the cell performs work 3. Maintenance of IMP levels within the cell is impaired
Myoadenylate Deaminase Deficiency Symptoms and Signs
Symptoms associated with this metabolic order include severe fatigue and muscular pains. Absence of ammonia may result in reduction of fumarate amounts available to the citric acid cycle leading to lower levels of nitric oxide, a vasodilator in the body. As a result, reduction in the blood flow and oxygen intake is observed when doing rigorous exercises. Reduction in IMP may result in reduction of lactic acid produced by muscles.
Myoadenylate Deaminase Deficiency Treatment
Sometime, relief from the symptoms associated with MADD can be achieved by oral administration of ribose with a dosage of approximately 10g/100 lbs or 0.2 g/kg body weight per day.