Glykogenose Typ IV (Andersen)

Autor: M. Buller, J. Kohlhase, M. Vogel, H. Zhou, D. Rothacker, A. Winterroth, G. Kistner, G. Gillessen-Kaesbach
Rok vydání: 2010
Předmět:
Zdroj: Der Pathologe. 31:293-296
ISSN: 1432-1963
0172-8113
DOI: 10.1007/s00292-010-1290-5
Popis: Here we report the case of a newborn with glycogenosis type IV (Andersen disease), who died shortly after birth. The diagnosis was established in the first instance by light microscopy and histochemistry, and subsequently ultrastructurally. DNA could be extracted from a fibroblast cell culture by sequencing the causative GBE1 gene (glycogen branching enzyme 1). Two compound heterozygous mutations in the gene were identified. The differential diagnosis should include Lafora disease as well as polyglucosan body disease. Since there is no effective therapy for glycogenosis type IV to date, prenatal diagnosis is mandatory.
Databáze: OpenAIRE
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