The results of immunochemical studies performed in 6 cases of type II glycogenosis (1 classical form, Pompe's disease) and 5 atypical forms (2 juvenile, 3 adult) are reported. The use of antiacid alpha-1,4-glucosidase antibodies greatly improved the specificity of the diagnostic tests for type II
Pompe disease is an autosomal recessive disorder caused by a deficiency of acid α-glucosidase (GAA), an enzyme responsible for hydrolyzing lysosomal glycogen. Deficiency of GAA leads to systemic glycogen accumulation in the lysosomes of skeletal muscle, motor neurons, and smooth muscle. Skeletal
Metabolic cardiomyopathies include amino acid, lipid and mitochondrial disorders, as well as storage diseases. A number of metabolic disorders are associated with both myopathy and cardiomyopathy. These include the glycogen storage diseases, ie, acid maltase deficiency (infantile, childhood, and
اكتب أحد الأعراض أو المرض واقرأ عن الأعشاب التي قد تساعد ، واكتب عشبًا واطلع على الأمراض والأعراض التي تستخدم ضدها. * تستند جميع المعلومات إلى البحوث العلمية المنشورة