Molecular diagnosis of glycogen storage disease type IX using a glycogen storage disease gene panel

2020 ◽  
Vol 63 (6) ◽  
pp. 103921
Author(s):  
Tae Hyeong Kim ◽  
Kwang Yeon Kim ◽  
Man Jin Kim ◽  
Moon-Woo Seong ◽  
Sung Sup Park ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Molecular Diagnosis ◽  
Storage Disease ◽  
Disease Gene ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Gene Panel

Molecular diagnosis of German patients with late-onset glycogen storage disease type II

2008 ◽  
Vol 31 (S2) ◽  
pp. 261-265 ◽  
Author(s):  
P. R. Joshi ◽  
D. Gläser ◽  
S. Schmidt ◽  
M. Vorgerd ◽  
M. Winterholler ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Molecular Diagnosis ◽  
Storage Disease ◽  
Late Onset ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ii

An infant presenting with extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia

2020 ◽  
Vol 33 (6) ◽  
pp. 803-808
Author(s):  
Ling-Juan Fang ◽  
Kuerbanjiang Abuduxikuer ◽  
Xiu-Mei Yan ◽  
Huan Zhu ◽  
Kai-Yu Huang
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Good Condition ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Gene Panel ◽  
Close Monitoring ◽  
Gene Panel Testing ◽  
Type Ia

AbstractBackgroundMarked hypertriglyceridemia in infancy is extremely rare. Patients with severe hypertriglyceridemia in early life may be unmasked by a primary or secondary cause.Case presentationA female infant was born in a good condition with normal Apgar scores. No special clinical symptoms and signs had been found within the first two months of life. Poor oral intake and failure to thrive were two main clinical manifestations when she was referred to our hospital at the age of 3.5 months. The milky serum was the only one characteristic presentation. Laboratory testing showed extremely high level of triglycerides, cholesterol and lactate. Many other laboratory indexes cannot be detected because of severe hyperlipemic samples. Multi-gene panel testing for 249 genes about genetic and metabolic liver disease were performed. Gene analysis revealed a G6PC gene deficiency. The patient was a homozygote for c.248G > A, p.R83H and her parents were both the heterozygotes. The infant had been diagnosed as glycogen storage disease type Ia.ConclusionsWe report an infant presenting with extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia by genetic testing. The gene panel can be used to confirm the diagnosis and delineate the exact type of glycogen storage disease, which could ultimately really help to reduce unnecessary tests and invasive examinations. Serum lipid should be close monitoring in order to prevent the complications and improve the prognosis.

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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