Open AccessLate-onset Pompe disease: preliminary results of enzyme replacement therapy
Author(s) -
Л. П. Смертина,
Ф. И. Аушева,
А. Грязнов,
Д. А. Светлаков,
Л. Н. Колбасин
Publication year - 2019
Publication title -
nervno-myšečnye bolezni
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.139
H-Index - 3
eISSN - 2413-0443
pISSN - 2222-8721
DOI - 10.17650/2222-8721-2019-9-2-43-49
Subject(s) - enzyme replacement therapy , glycogen storage disease type ii , disease , lysosomal storage disease , medicine , pathological , glycogen storage disease , genetic enhancement , phenotype , substrate reduction therapy , enzyme , pathology , endocrinology , biology , gene , genetics , biochemistry
Pompe disease is an orphan hereditary accumulation disease associated with a deficiency of the lysosomal enzyme alglucosidase alpha. Manifestations of the disease are associated with pathological deposition of glycogen in body tissues as a result of GAA gene mutation and subsequent reduction in the activity of the enzyme alglucosidase alpha or acid maltase. The variety of phenotypic forms and varying degrees of damage to the skeletal and respiratory muscles, cardiomyocytes and internal organs greatly complicates the diagnosis and treatment of patients with Pompe»s disease. This article describes the clinical case of late-onset Pompe disease, which was followed by a course of enzyme replacement therapy, as well as an assessment of the condition before and after treatment and preliminary results.