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Aldolase A deficiency is an autosomal recessive [3] metabolic disorder resulting in a deficiency of the enzyme aldolase A; the enzyme is found predominantly in red blood cells and muscle tissue. The deficiency may lead to hemolytic anaemia as well as myopathy associated with exercise intolerance and rhabdomyolysis in some cases.
Their target, aldose reductase, is an enzyme that is normally present in many other parts of the body, and catalyzes one of the steps in the sorbitol pathway that is responsible for fructose formation from glucose.
Aldolase B is a homotetrameric enzyme, composed of four subunits with molecular weights of 36 kDa with local 222 symmetry. Each subunit has a molecular weight of 36 kDa and contains an eight-stranded α/β barrel, which encloses lysine 229 (the Schiff-base forming amino acid that is key for catalysis).
Aldolase A (ALDOA, or ALDA), also known as fructose-bisphosphate aldolase, is an enzyme that in humans is encoded by the ALDOA gene on chromosome 16.. The protein encoded by this gene is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate (G3P) and dihydroxyacetone phosphate (DHAP).
Fructose-1-phosphate is metabolized by aldolase B into dihydroxyacetone phosphate and glyceraldehyde. HFI is caused by a deficiency of aldolase B. [5] A deficiency of aldolase B results in an accumulation of fructose-1-phosphate, and trapping of phosphate (fructokinase requires adenosine triphosphate (ATP)). The downstream effects of this ...
No specific treatment. General advice is avoidance of vigorous exercise and of high-carbohydrate meals. PFKL: 171860: Liver, also RBCs Step 4 Aldolase A: ALDOA: 103850: Muscle, also liver and RBCs Aldolase A deficiency (GSD type XII, GSD 12, red cell aldolase deficiency) OMIM:GSD XII GARD:GSD XII ORPHA:GSD XII: Muscle symptoms: Myopathy.
At this time there is no treatment for transaldolase deficiency. [13] There is currently research being done to find treatments for transaldolase deficiency. A study done in 2009 used orally administered N-acetylcysteine on transaldolase deficient mice and it prevented the symptoms associated with the disease. [14]
Unqualified, aldolase usually refers to the enzyme fructose-bisphosphate aldolase. Aldolase may also refer to: Proteins serving as fructose-bisphosphate aldolase