scholarly journals Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Tolga Aksu ◽  
Ayse Colak ◽  
Omac Tufekcioglu
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Autosomal Recessive Disorder ◽  
Decompensated Heart Failure ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Muscle Disease ◽  
Type Iv

Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder due to the deficiency ofα1,4-glucan branching enzyme, resulting in an accumulation of amylopectin-like polysaccharide in various systems. We describe two cases, a 23-year-old girl with dilated cardiomyopathy who presented with progressive dyspnea and fatigue and a 28-year-old girl with hypertrophic cardiomyopathy who was asymptomatic, secondary to the accumulation of amylopectin-like fibrillar glycogen, in heart. In both patients, the diagnosis was confirmed by enzyme assessment. Our patients showed that GSD IV is not only liver or skeletal muscle disease, but also it can be presented in different form of the spectrum of cardiomyopathy from dilated to hypertrophic and from asymptomatic to decompensated heart failure. Also, to our knowledge, this is the first hypertrophic cardiomyopathy case due to GSD IV in the literature.

scholarly journals Glycogen storage disease type iv: a case with histologic findings in placental tissue from first trimester miscarriage

2019 ◽  
Vol 18 (3) ◽  
pp. 105-107
Author(s):  
Anastasia Papakonstantinou ◽  
Konstantinos Zacharis ◽  
Stavros Kravvaritis ◽  
Theodoros Charitos ◽  
Eleni Chrysafopoulou ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Placental Tissue ◽  
Autosomal Recessive Disorder ◽  
First Trimester ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iv

Glycogen storage disease Type IV is a rare hereditary autosomal recessive disorder caused by deficient enzymatic activity of glycogen branching enzyme (GBE) which is encoded by GBE1 gene. We hereby report the case of a 32-year-old woman presented with a first-trimester miscarriage. The histologic findings of the placental tissue included intracytoplasmic inclusion vacuoles suggested GSD‐IV. The diagnosis was confirmed by the genetic analysis of the parents, in which mother was found to be carrier of a GBE1 mutation. This variable disorder can be diagnosed by histopathology of the placenta but for its confirmation and prevention in subsequent pregnancies, genetic analysis is needed.

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

Fatal infantile neuromuscular presentation of glycogen storage disease type IV

2004 ◽  
Vol 14 (4) ◽  
pp. 253-260 ◽  
Author(s):  
Stacey K.H. Tay ◽  
Hasan O. Akman ◽  
Wendy K. Chung ◽  
Michael G. Pike ◽  
Francesco Muntoni ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iv

scholarly journals Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

2018 ◽  
pp. 99-104 ◽  
Author(s):  
Imre F. Schene ◽  
Christoph G. Korenke ◽  
Hidde H. Huidekoper ◽  
Ludo van der Pol ◽  
Dennis Dooijes ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Neuromuscular Disorders ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iv

PP-205: CARDIAC INVOLVEMENT IN GLYCOGEN STORAGE DISEASE TYPE IV: TWO CASES AND THE TWO ENDS OF A SPECTRUM

2011 ◽  
Vol 147 ◽  
pp. S146-S147
Author(s):  
T. Aksu ◽  
S. Shukri ◽  
A. Colak ◽  
T. Sen ◽  
O. Tufekcioglu
Keyword(s):  
Glycogen Storage Disease ◽  
Cardiac Involvement ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iv

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder

2010 ◽  
Vol 33 (S3) ◽  
pp. 83-90 ◽  
Author(s):  
Sing-Chung Li ◽  
Chiao-Ming Chen ◽  
Jennifer L. Goldstein ◽  
Jer-Yuarn Wu ◽  
Emmanuelle Lemyre ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Novel Mutations ◽  
Type Iv

Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV)

2016 ◽  
Vol 228 (05) ◽  
pp. 277-279
Author(s):  
A. Schänzer ◽  
D. Faas ◽  
S. Rust ◽  
T. Podskarbi ◽  
A. van Kuilenburg ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iv ◽  
Chitotriosidase Activity
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