1176C Polymorphism in Japanese patients with glycogen storage disease type 1a

1999 ◽  
Vol 104 (2) ◽  
pp. 193-193 ◽  
Author(s):  
M. Okubo ◽  
Asako Horinishi ◽  
Toshio Murase ◽  
Keisuke Hamada
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Japanese Patients ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type

Glycogen Storage Disease Type IV Diagnosed at Fetal Autopsy

2019 ◽  
Vol 23 (4) ◽  
pp. 301-305
Author(s):  
Daniel C Butler ◽  
W Bailey Glen ◽  
Cynthia Schandl ◽  
Angelina Phillips
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Periodic Acid ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Unknown Etiology ◽  
Chromosomal Microarray Analysis ◽  
Fetal Autopsy ◽  
Type Iv

Glycogen storage disease type IV (GSD IV; Andersen's disease) is a rare autosomal recessive disorder that results from defects in the GBE1 gene (3p12.2) and subsequent deficiencies of glycogen branching. We report a case of GSD IV diagnosed at autopsy in a 35 4/7 weeks gestational age female neonate that died shortly after birth. Multisystem blue, ground glass inclusions initially presumed artefactual were periodic acid-Schiff positive, diastase resistant. Chromosomal microarray analysis identified a deletion of exons 2 through 16 of the GBE1 gene and whole exome sequencing identified a nonsense mutation within exon 14, confirming the diagnosis of GSD IV. A strong index of suspicion was required determine GSD IV as the ultimate cause of death, illustrating the need for critical evaluation of postmortem artifact in the setting of fetal demise of unknown etiology and highlighting the role of postmortem molecular diagnostics in a subset of cases.

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