Prenatal Diagnosis of Glycogen Storage Disease Type II: Enzyme Assay or Mutation Analysis?
نویسندگان
چکیده
منابع مشابه
Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing?
We report two cases which illustrate that enzyme assay results alone, may at times be equivocal and inconclusive in the prenatal diagnosis of storage disorders like Pompe disease and therefore, if the probands mutation is known, targeted mutation analysis of fetal DNA is the most reliable method for fetal evaluation.
متن کاملPrenatal diagnosis of glycogen storage disorder type III.
Among glycogen storage disorders, deficiency of glycogen debranching enzyme causes an incomplete glycogenolysis resulting in glycogen accumulation with abnormal structure in liver and muscle. This report describes a novel mutation in a family with glycogen storage disorder Type III in index child used in prenatal diagnosis in the fetus in second trimester.
متن کاملPompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy.
Pompe disease (glycogen storage disease type II, acid maltase deficiency) is a progressive metabolic myopathy caused by deficiency of the lysosomal enzyme acid alpha-glucosidase. This leads to an accumulation of glycogen in various tissues of the body, most notably in skeletal muscle. The disease has an autosomal recessive inheritance with a predicted frequency of 1 :40.000. Pompe disease is a ...
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Pompe's disease (acid maltase deficiency, glycogen storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid α-1,4-glucosidase, resulting in excessive accumulation of glycogen in the lysosomes and cytoplasm of all tissues, most notably in skeletal muscles. We present a case of adult-onset Pompe's disease with progressive proximal muscles weakness over ...
متن کاملFirst Case of Late-Onset Glycogen Storage Disease Type II in Russia with a Novel Mutation.
recessive disorder resulting from a defi ciency of acid α-glucosidase (GAA, or acid maltase), includes two main forms – infantileand late-onset glycogen storage disease type II (GSD II). Despite the age of onset and different life prognosis, Pompe disease is a single disease continuum with variable rates of disease progression and different ages of onset. The late-onset form of Pompe disease (L...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1995
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-199507000-00018