scholarly journals A Novel Lipoprotein Lipase Mutation in an Infant With Glycogen Storage Disease Type-Ib and Severe Hypertriglyceridemia

2021 ◽  
Vol 9 ◽  
Author(s):  
Fengyu Wang ◽  
Fengli Wang ◽  
Xiaojun Zhou ◽  
Yingjie Yi ◽  
Jie Zhao
Keyword(s):  
Lipoprotein Lipase ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Frameshift Mutation ◽  
Clinical Manifestations ◽  
Glycogen Storage ◽  
Compound Heterozygous ◽  
Low Grade ◽  
Severe Hypertriglyceridemia ◽  
Laboratory Test Results

Glycogen storage disease (GSD) Ib is a rare genetic metabolic disorder caused by gene mutation in the glucose 6-phosphate transport gene SLC37A4 (OMIM# 602671). This study aimed to explore the association between a novel lipoprotein lipase (LPL) mutation and severe hypertriglyceridemia in a GSD Ib infant with severe hypertriglyceridemia. A 5-month-old girl was admitted to our hospital because of repeated episodes of low-grade fever over the past month and because of neutropenia. The patient was diagnosed with GSD Ib and severe hypertriglyceridemia based on clinical manifestations and laboratory test results. Next-generation sequencing and Sanger sequencing were then applied to DNA from the peripheral blood of the patient and her parents to analyze gene mutations. Pathogenicity prediction analysis was performed using Sorting Intolerant From Tolerant (SIFT) and PolyPhen-2 platforms. The results revealed that this infant carried a compound heterozygous variation in the SLC37A4 gene, a c.1043T > C (p.L348P) mutation derived from her mother and a c.572C > T (p.P191L) mutation derived from her father. In addition, a novel c.483delA (p. A162Pfs*10) frameshift mutation was found in the patient's LPL gene exon 4, which was derived from the heterozygous carrier of her father. The SIFT and PolyPhen-2 prediction programs indicated that these mutations were likely harmful. Medium-chain triglyceride milk and granulocyte colony-stimulating factor subcutaneous injection alleviated the symptoms. Our findings identified a novel LPL gene frameshift mutation combined with SLC37A4 gene compound heterozygous mutations in a GSD Ib infant with severe hypertriglyceridemia.

scholarly journals A Case with Glycogen Storage Disease Associated with Hepatic Tumor and Severe Hypertriglyceridemia

1987 ◽  
Vol 15 (4) ◽  
pp. 991-996
Author(s):  
Keijiro SAKU ◽  
Mihoko INOUE ◽  
Seiji UENO ◽  
Yoichi TAKADA ◽  
Akio KINOSHITA ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage ◽  
Hepatic Tumor ◽  
Severe Hypertriglyceridemia

scholarly journals Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib

2019 ◽  
Vol 47 (12) ◽  
pp. 5996-6003
Author(s):  
Yamei Zhang ◽  
Huihui Sun ◽  
Naijun Wan
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Gene Mutations ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Type I

Objective The aim of the study was to investigate the relationship between SLC37A4 gene mutation and clinical phenotype in a patient with glycogen storage disease-type I. Methods The clinical data of one patient with glycogen storage disease-type I accumulation syndrome and the results of SLC37A4 gene testing were analyzed. DNA from peripheral blood was used to analyze the SLC37A4 mutations of the patient and his parents. Results The patient carried a compound heterozygous mutation of SLC37A4, his mother was heterozygous for the c.572C > T (p.P191L) mutation, and his father was heterozygous for the c.359C > T (p.P120L) mutation. Conclusion The patient had two gene mutations: c.359C > T (p.P120L), which is closely related to glycogen storage disease-type I, and c.572C > T (p.P191L), which is a known mutation in the disease.

scholarly journals Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes

2013 ◽  
Vol 58 (5) ◽  
pp. 285-292 ◽  
Author(s):  
Jun Kido ◽  
Kimitoshi Nakamura ◽  
Shirou Matsumoto ◽  
Hiroshi Mitsubuchi ◽  
Toshihiro Ohura ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Clinical Manifestations ◽  
Glycogen Storage ◽  
Current Status ◽  
Hepatic Glycogen ◽  
Long Term Outcomes

scholarly journals Liver Transplantation for Glycogen Storage Disease Type IV

2021 ◽  
Vol 9 ◽  
Author(s):  
Min Liu ◽  
Li-Ying Sun
Keyword(s):  
Liver Transplantation ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Therapeutic Option ◽  
Clinical Manifestations ◽  
Specific Treatment ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iv

Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by glycogen–branching enzyme (GBE) deficiency, leading to accumulation of amylopectin–like glycogen that may damage affected tissues. The clinical manifestations of GSD IV are heterogeneous; one of which is the classic manifestation of progressive hepatic fibrosis. There is no specific treatment available for GSD IV. Currently, liver transplantation is an option. It is crucial to evaluate long–term outcomes of liver transplantation. We reviewed the published literature for GSD IV patients undergoing liver transplantation. To date, some successful liver transplantations have increased the quantity and quality of life in patients. Although the extrahepatic manifestations of GSD IV may still progress after transplantation, especially cardiomyopathy. Patients with cardiac involvement are candidates for cardiac transplantation. Liver transplantation remains the only effective therapeutic option for treatment of GSD IV. However, liver transplantation may not alter the extrahepatic progression of GSD IV. Patients should be carefully assessed before liver transplantation.

scholarly journals A novel mutation in a newborn baby leading to glycogen storage disease type Ia

2018 ◽  
Vol 21 (2) ◽  
pp. 55-57
Author(s):  
S Dorum ◽  
O Gorukmez
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Novel Mutation ◽  
Direct Sequencing ◽  
Clinical Manifestations ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Clinical Findings ◽  
Disease Type ◽  
Type Ia

Abstract Glycogen storage disease type Ia (GSD1A) is caused by mutations in the G6PC gene. The G6PC gene was first cloned in 1993. Since then, many different mutations have been identified leading to this disease. Hepatomegaly is one of the important clinical manifestations of the disease. A 23-day-old girl was admitted to the hospital due to respiratory distress. Her physical examination was normal except for tachypnea. She had hypoglycemia, lactic academia, hyperlipidemia and hyperuricemia. With these clinical findings, GSD1A was considered in the patient and the diagnosis was genetically confirmed. By direct sequencing of the G6PC gene, we identified a novel homozygous variation (c.137T>G/p.Leu46Arg) in the patient and the healthy mother and father were heterozygotes for the variant. Here we present a case with a novel homozygous missense mutation c.137T>G/p.Leu46Arg in the G6PC gene leading to GSD1A clinical findings except early hepatomegaly. These findings expand the spectrum of causative mutations, and clinical findings in GSD1A.

Pompe disease (glycogen storage disease type II) in Argentineans: Clinical manifestations and identification of 9 novel mutations

2007 ◽  
Vol 17 (1) ◽  
pp. 16-22 ◽  
Author(s):  
Rachel E. Palmer ◽  
Hernan M. Amartino ◽  
Gabriela Niizawa ◽  
Mariana Blanco ◽  
Robert J. Pomponio ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Pompe Disease ◽  
Storage Disease ◽  
Clinical Manifestations ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ii ◽  
Novel Mutations

scholarly journals Glycogen storage disease type IV: dilated cardiomyopathy as the isolated initial presentation in an adult patient

2019 ◽  
Vol 12 (9) ◽  
pp. e230068
Author(s):  
Mesaki Kenneth Ndugga-Kabuye ◽  
Joseph Maleszewski ◽  
Sirisak Chanprasert ◽  
Kelly D Smith
Keyword(s):  
Dilated Cardiomyopathy ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Clinical Manifestations ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Polyglucosan Bodies ◽  
Type Iv ◽  
Diagnostic Certainty

Glycogen storage disease type IV (GSD IV, Andersen disease) is a rare autosomal recessive condition. The childhood neuromuscular subtype of GSD IV is characterised by a progressive skeletal myopathy with cardiomyopathy also reported in some individuals. We report a case of a 19-year-old man who presented with severe non-ischaemic dilated cardiomyopathy (NIDCM) necessitating heart transplantation, with biopsy showing aggregations of polyglucosan bodies in cardiac myocytes. He had no signs or symptoms of muscle weakness, liver dysfunction or neurologic involvement. A homozygous GBE1 c.607C>A (p.His203Asn) variant was identified. Our case is unusual in that our patient presented with an isolated NIDCM in the absence of other clinical manifestations of GSD IV. This case highlights the importance of considering storage disorders in young adults presenting with isolated NIDCM of unknown aetiology. It also emphasises the potential synergy between histopathological evaluation and genomic testing in enhancing diagnostic certainty.

scholarly journals Glycogen Storage Disease Type Ia in Canines: A Model for Human Metabolic and Genetic Liver Disease

2011 ◽  
Vol 2011 ◽  
pp. 1-9 ◽  
Author(s):  
Andrew Specht ◽  
Laurie Fiske ◽  
Kirsten Erger ◽  
Travis Cossette ◽  
John Verstegen ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Clinical Manifestations ◽  
Glycogen Storage Disease Type ◽  
Canine Model ◽  
Glycogen Storage ◽  
Disease Type ◽  
Hepatic Diseases ◽  
Type Ia ◽  
Preclinical Trials

A canine model of Glycogen storage disease type Ia (GSDIa) is described. Affected dogs are homozygous for a previously described M121I mutation resulting in a deficiency of glucose-6-phosphatase-α. Metabolic, clinicopathologic, pathologic, and clinical manifestations of GSDIa observed in this model are described and compared to those observed in humans. The canine model shows more complete recapitulation of the clinical manifestations seen in humans including “lactic acidosis”, larger size, and longer lifespan compared to other animal models. Use of this model in preclinical trials of gene therapy is described and briefly compared to the murine model. Although the canine model offers a number of advantages for evaluating potential therapies for GSDIa, there are also some significant challenges involved in its use. Despite these challenges, the canine model of GSDIa should continue to provide valuable information about the potential for generating curative therapies for GSDIa as well as other genetic hepatic diseases.

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