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When the enzyme adenosine deaminase is deficient in the body, the result is a toxic build-up of metabolites that impair lymphocyte development and function. [9] Many ADA deficient children with SCID have been treated with the polyethylene glycol-conjugated adenosine deaminase (PEG-ADA) enzyme.
Recurrent or episodic rhabdomyolysis is commonly due to intrinsic muscle enzyme deficiencies, which are usually inherited and often appear during childhood. [10] [13] Many structural muscle diseases feature episodes of rhabdomyolysis that are triggered by exercise, general anesthesia or any of the other causes of rhabdomyolysis listed above. [10]
PDE5 inhibitors have shown promise in the treatment of heart failure with reduced ejection fraction through several beneficial effects on lung vasculature, cardiac remodelling and diastolic function. [3] A study showed that effective treatment of pulmonary arterial hypertension with sildenafil improved functional capacity and reduced right ...
Myozyme (alglucosidase alfa) is a recombinant form of the human enzyme acid alpha-glucosidase, and is also currently being used to replace the missing enzyme. In a study [23] which included the largest cohort of patients with Pompe disease treated with enzyme replacement therapy (ERT) to date findings showed that Myozyme treatment clearly ...
Systemic scleroderma, or systemic sclerosis, is an autoimmune rheumatic disease characterised by excessive production and accumulation of collagen, called fibrosis, in the skin and internal organs and by injuries to small arteries. There are two major subgroups of systemic sclerosis based on the extent of skin involvement: limited and diffuse.
Myostatin is a myokine that is produced and released by myocytes and acts on muscle cells to inhibit muscle growth. [7] Myostatin is a secreted growth differentiation factor that is a member of the TGF beta protein family. [8] [9] Myostatin is assembled and produced in skeletal muscle before it is released into the blood stream. [10]
In contrast, while muscle glycogen is available, accumulation of lactic acid in this situation would produce a noticeable sensation. On the other hand, in persons with balanced AMPD and myophosphorylase activities in muscle cells, lactic acid and ammonia are produced simultaneously, counteracting each other's effects to some degree.
Patients with low activity (10% prevalence) or especially absent activity (prevalence 0.3%) are at a heightened risk of drug-induced bone marrow toxicity due to accumulation of the unmetabolised drug. Reuther et al. found that about 5% of all thiopurine therapies will fail due to toxicity. This intolerant group could be anticipated by routine ...