Congenital form of glycogen storage disease type IV: A case report and a review of the literature

2004 ◽  
Vol 46 (4) ◽  
pp. 474-477 ◽  
Author(s):  
Keinchi Maruyama ◽  
Tomoko Suzuki ◽  
Takenobu Koizumi ◽  
Hideo Sugie ◽  
Tokiko Fukuda ◽  
...  
Keyword(s):  
Case Report ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Review Of The Literature ◽  
Congenital Form ◽  
Type Iv

Null mutations and lethal congenital form of glycogen storage disease type IV

2007 ◽  
Vol 361 (2) ◽  
pp. 445-450 ◽  
Author(s):  
Stefania Assereto ◽  
Otto P. van Diggelen ◽  
Luisa Diogo ◽  
Eva Morava ◽  
Denise Cassandrini ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Congenital Form ◽  
Type Iv

scholarly journals Glycogen Storage Disease Type IV : A Case Report

2020 ◽  
Vol 4 (Reports in Microbiology, Infecti) ◽  
pp. 1
Author(s):  
Abdelhakim elyajouri ◽  
mohamed sellouti ◽  
Abdelhakim Ourrai ◽  
Amale Hassani ◽  
Rachid Abilkassem ◽  
...  
Keyword(s):  
Case Report ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iv

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.

Non-lethal congenital hypotonia due to glycogen storage disease type IV

2006 ◽  
Vol 140A (8) ◽  
pp. 878-882 ◽  
Author(s):  
T. Andrew Burrow ◽  
Robert J. Hopkin ◽  
Kevin E. Bove ◽  
Lili Miles ◽  
Brenda L. Wong ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iv

A neonatal form of glycogen storage disease type IV

Neurology ◽  
2003 ◽  
Vol 61 (3) ◽  
pp. 392-394 ◽  
Author(s):  
M. Nambu ◽  
K. Kawabe ◽  
T. Fukuda ◽  
T. B. Okuno ◽  
S. Ohta ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iv
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