I-4 Long-term follow-up effects on enzyme replacement treatment of adult form of acid maltase deficiency myopathy
نویسندگان
چکیده
Other potential modes of metabolic therapy include: 1.Supplementation of the missing compound, e.g. CoQ10 which is effective only in primary Q10 deficiency and is given to most patients with mitochondrial disorders even if deficiency is not tested; 2. Pharmacologically increasing the oxidative capacity of muscle (by giving various ‘cocktails’ of oxygen species scavengers that include: carnitine, vitamin C, riboflavin, and extra creatine); 3. Changing the diet composition in order to increase the availability of compensatory fuel sources (e.g. sucrose or a carbohydrate rich diet given before exercise in MacArdle’s disease). Because of the rarity of metabolic myopathies no proper double blind studies were performed to assess these therapeutic modalities. Hereditary inclusion body myopathy (HIBM) is a destructive muscle disease due to mutations in GNE, an enzyme in the synthetic pathway of sialic acid. Part of the pathogenic mechanism is thought to be sialylation deficiency so correcting it may affect the disease course. Providing orally a metabolic intermediate that is downstream to the defective site in the sialic acid pathway (e.g. ManNac) or sialic acid itself was shown to be effective in a mouse model of HIBM. With these considerations in mind, planned therapy of this progressive metabolic myopathy is now reaching human trials. Human and animal toxicity studies with various compounds are now in progress.
منابع مشابه
Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease.
Pompe disease (type 2 glycogenosis, acid maltase deficiency) is a disorder affecting skeletal and cardiac muscle, caused by deficiency of acid alpha-glucosidase. In 2006 enzyme therapy with recombinant human alpha-glucosidase received marketing approval based on studies in infants. Results in older children and adults are awaited. Earlier we reported on the 3-year follow-up data of enzyme thera...
متن کاملTwo eminently treatable genetic metabolic myopathies.
Treatment of the genetic metabolic myopathies remains generally unsatisfactory with the exception of a select few. Multiple Acyl Co-A Dehydrogenase Deficiency (Glutaric Aciduria type II), in particular, has been shown to respond well to riboflavin supplementation. Recently, studies have also confirmed the effectiveness of recombinant enzyme replacement therapy for Acid Maltase Deficiency (Pompe...
متن کاملClinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail.
Pompe disease is a fatal genetic muscle disorder caused by a deficiency of acid alpha-glucosidase (GAA), a glycogen degrading lysosomal enzyme. GAA-deficient (AMD) Japanese quails exhibit progressive myopathy and cannot lift their wings, fly, or right themselves from the supine position (flip test). Six 4-wk-old acid maltase-deficient quails, with the clinical symptoms listed, were intravenousl...
متن کاملEffect of enzyme replacement therapy (ERT) added to Home Mechanical Ventilation (HMV) in Adult Pompe disease
Adult Pompe disease/acid maltase deficiency is an autosomal recessive disorder resulting in accumulation of glycogen in skeletal muscles, leading to myopathy frequently involving respiratory muscles. This involvement can cause respiratory insufficiency that may present as acute hypercapnic respiratory failure. Enzyme replacement therapy (ERT) with alpha - glucosidase alfa, the only disease-spec...
متن کاملClinical and Metabolic Correction of Pompe Disease by Enzyme Therapy in Acid
Pompe disease is a fatal genetic muscle disorder caused by a deficiency of acid a -glucosidase (GAA), a glycogen degrading lysosomal enzyme. GAA-deficient (AMD) Japanese quails exhibit progressive myopathy and cannot lift their wings, fly, or right themselves from the supine position (flip test). Six 4-wk-old acid maltase–deficient quails, with the clinical symptoms listed, were intravenously i...
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عنوان ژورنال:
دوره 30 شماره
صفحات -
تاریخ انتشار 2011