Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A

Article Abstract:

A 4.5-year-old boy with muscle weakness and intolerance of normal exercise had an inherited deficiency of aldolase A, the isoenzyme responsible for sugar conversion and subsequent muscle energy. Researchers diagnosed this metabolic defect in a feverish boy too small and light for his age after analyzing cells from muscle tissue. Aldolase activity in the red blood cells of muscle tissue was almost non-existent in the patient, while the brother and parents of the patient had 50% of the aldolase enzyme activity found in healthy volunteers. Further analysis linked the enzyme defect to a new mutation of a single amino acid, changing the glutamic acid located on chromosome 16 into lysine. Aldolase A deficiency probably caused the substantial damage in muscle cells as seen in various sizes of muscle fibers and large spaces between fibers.

Case studies, Physiological aspects, Genetic aspects, Sugar, Isoenzymes, Metabolism, Inborn errors of, Inborn errors of metabolism, Sugar in the body

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Inherited deficiency of mannan-binding lectin-associated serine protease 2

Article Abstract:

A 36-year-old man who had a history of repeat infections and inflammatory diseases was found to have a deficiency of mannan-binding lectin-associated serine protease 2 (MASP-2). This in turn was caused by a mutation in the CUB1 domain of the gene that produces this protein. MASP-2 is part of the complement system, which forms part of the innate immune system.

Causes of, Immunodeficiency

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