Adenosine Monophosphate Deaminase Deficiency

Definition

Definition of Adenosine Monophosphate Deaminase Deficiency
Adenosine monophosphate deaminase deficiency is also called myoadenylate deaminase deficiency. It a recessive genetic metabolic disorder that affects approximately 1–2% of populations of European descent. It appears to be considerably rarer in Asian populations. The genetic defect causing this is AMP deaminase though there is also an acquired form of AMP deficiency.

Symptoms

Symptoms of Adenosine Monophosphate Deaminase Deficiency
The majority of people with the AMPD gene are asymptomatic, but others have symptoms including early fatigue, muscle pain and muscle cramping.

1. Fatigue
2. Muscle pain
3. Muscle cramping
4. Muscle weakness

Causes

Causes of Adenosine Monophosphate Deaminase Deficiency
AMP deaminase is an enzyme that converts adenosine monophosphate (AMP) to inosine monophosphate (IMP), freeing an ammonia molecule in the process. It is a part of the metabolic process that converts sugar, fat, and protein into cellular energy. In order to use energy, a cell converts one of the above fuels into adenosine triphosphate (ATP) via the mitochondria. Cellular processes, especially muscles, then convert the ATP into adenosine diphosphate (ADP), freeing the energy to do work.

Diagnosis

Diagnosis of Adenosine Monophosphate Deaminase Deficiency
These resources address the diagnosis or management of adenosine monophosphate deaminase deficiency and may include treatment providers.

1. Gene Tests: Adenosine Monophosphate Deaminase 1This link leads to a site outside Genetics Home Reference.
2. MedlinePlus Encyclopedia: Muscle achesThis link leads to a site outside Genetics Home Reference.
3. MedlinePlus Encyclopedia: WeaknessThis link leads to a site outside Genetics Home Reference.

Treatment

Treatment of Adenosine Monophosphate Deaminase Deficiency
It is important for MADD patients to maintain strength and fitness without exercising or working to exhaustion. Learning this balance may be more difficult than normally, as muscle pain and fatigue may be perceived differently than normal individuals.

Symptomatic relief from the effects of MADD may sometimes be achieved by administering ribose orally at a dose of approximately 10 grams per 100 pounds (0.2 g/kg) of body weight per day. and exercise modulation as appropriate. Taken hourly, ribose provides a direct but limited source of energy for the cells. Patients with myoadenylate deaminase deficiency do not retain ribose during heavy exercise, so supplementation may be required to rebuild levels of ATP.

Prognosis

Prognosis of Adenosine Monophosphate Deaminase Deficiency
Consult with your doctor.

Prevention

Prevention of Adenosine Monophosphate Deaminase Deficiency
Consult with your doctor.