Aldolase A Deficiency

Definition

Definition of Aldolase A Deficiency
Aldolase A deficiency, also called ALDOA deficiency and red cell aldolase deficiency, is an autosomal recessive metabolic disorder resulting in a deficiency of the enzyme aldolase A, which is found predominantly in muscle and red blood cells. It may lead to myopathy, exercise intolerance and rhabdomyolysis associated with hemolytic anaemia.

Symptoms

Symptoms of Aldolase A Deficiency
The list of signs and symptoms for Aldolase A deficiency listed below:

1. Myopathy
2. Exercise intolerance
3. Rhabdomyolysis
4. Hemolytic anemia
5. Premature muscle fatigue
6. Muscle weakness
7. Jaundice
8. Reduced muscle mass
9. Reduced muscle tone
10. Enlarged liver
11. Enlarged spleen

Causes

Causes of Aldolase A Deficiency
To research the causes of Aldolase A deficiency:

1. Autosomal recessive metabolic disorder
2. Myopathy
3. Rhabdomyolysis
4. Exercise intolerance

Diagnosis

Diagnosis of Aldolase A Deficiency
Consult with your doctor.

Treatment

Treatment of Aldolase A Deficiency
Consult with your doctor.

Prognosis

Prognosis of Aldolase A Deficiency
Consult with your doctor.

Prevention

Prevention of Aldolase A Deficiency
Complications and sequelae of Aldolase A deficiency from the Diseases Database include:

1. Haemolytic anaemia