Last update 21 Mar 2024
Glycogen Storage Disease Type IV
Last update 21 Mar 2024
Basic Info
Synonyms 1,4,alpha-glucan 6-alpha-glucosyltransferase deficiency, 4ｶﾞﾀﾄｳｹﾞﾝﾁｮｿﾞｳｼｮｳｶﾞｲ, AMYLOPECTINOSIS + [91] |
Introduction An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2. |
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Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL
Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
GBE Deficiency (GSD IV and APBD) Natural History Study
100 Clinical Results associated with Glycogen Storage Disease Type IV
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100 Translational Medicine associated with Glycogen Storage Disease Type IV
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05 Feb 2024bioRxiv : the preprint server for biology
A TBX5-dependent compartment boundary patterns the cardiac interventricular septum.
Author: Irfan S Kathiriya ; Martin H Dominguez ; Kavitha S Rao ; Jonathon M Muncie-Vasic ; W Patrick Devine ; Kevin M Hu ; Swetansu K Hota ; Bayardo I Garay ; Diego Quintero ; Piyush Goyal ; Megan N Matthews ; Reuben Thomas ; Tatyana Sukonnik ; Dario Miguel-Perez ; Sarah Winchester ; Emily F Brower ; André Forjaz ; Pei-Hsun Wu ; Denis Wirtz ; Ashley L Kiemen ; Benoit G Bruneau
Failure of septation of the interventricular septum (IVS) is the most common congenital heart defect (CHD), but mechanisms for patterning the IVS are largely unknown. We show that a Tbx5 + /Mef2cAHF + progenitor lineage forms a compartment boundary bisecting the IVS. This coordinated population originates at a first- and second heart field interface, subsequently forming a morphogenetic nexus. Ablation of Tbx5 + /Mef2cAHF + progenitors cause IVS disorganization, right ventricular hypoplasia, and mixing of IVS lineages. Reduced dosage of the CHD transcription factor TBX5 disrupts boundary position and integrity, resulting in ventricular septation defects (VSDs) and patterning defects including Slit2 and Ntn1 misexpression. Reducing NTN1 dosage partly rescues cardiac defects in Tbx5 mutant embryos. Loss of Slit2 or Ntn1 causes VSDs and perturbed septal lineage distributions. Thus, we identify essential cues that direct progenitors to pattern a compartment boundary for proper cardiac septation, revealing new mechanisms for cardiac birth defects.
08 Dec 2023Zhonghua bing li xue za zhi = Chinese journal of pathology
[Infant glycogen storage disease type Ⅳ: a clinicopathological and genetic characteristics analysis of five cases].
Article
Author: Q Y Wang ; J S Wang ; L Chen
Objective: To investigate the clinical pathology and gene mutation characteristics of patients with glycogen storage disease type Ⅳ (GSD Ⅳ). Methods: The clinical data, liver histopathology and ultrastructural morphology, and gene sequencing results of 5 GSD Ⅳ cases diagnosed in the Children's Hospital Affiliated to Shanghai Jiaotong University School of Medicine and the Children's Hospital of Fudan University from January 2015 to February 2022 were collected and analyzed retrospectively. Results: Among the 5 cases, 3 were male and 2 were female, ranging in age from 4 months to 1 year and 9 months. The clinical manifestations included fever, hepatosplenomegaly, liver insufficiency, growth retardation and hypotonia. Four cases had liver biopsy showing ground-glass-like changes in hepatocytes with intracytoplasmic inclusion bodies and varying degrees of fibrosis. Liver electron microscopy in 2 cases showed that the level of glycogen increased to varying degrees, and the cytoplasm was filled with low electron density substances. Genetic testing revealed that 3 cases had compound heterozygous variants in GBE1 gene; 1 case had a single pathogenic variant in GBE1 gene; and 1 case was deceased with no genetic testing, but each parent was tested for a heterozygous variant in the GBE1 gene. A total of 9 GBE1 gene mutations were detected, 3 of which were reported mutations and 6 novel mutations. One case died of liver cirrhosis, and 1 case underwent autologous liver transplantation. After transplantation, the liver function basically returned to normal, and the growth and development improved; the other 3 cases were managed through diet control and symptomatic treatment. Conclusions: CSD Ⅳ is an extremely rare inherited metabolic disease caused by GBE1 gene mutation, often presenting with hepatic and neuromuscular disorders, with heterogeneous clinical manifestations. The diagnosis mainly depends on histopathology and a pedigree gene analysis.
27 Nov 2023Journal of inherited metabolic disease
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
Article
Author: Charles R Lefèvre ; Sophie Collardeau-Frachon ; Nathalie Streichenberger ; Sophie Berenguer-Martin ; Alix Clémenson ; Jérôme Massardier ; Fabienne Prieur ; Hélène Laurichesse ; Fanny Laffargue ; Cécile Acquaviva-Bourdain ; Roseline Froissart ; Magali Pettazzoni
Glycogen storage disease type IV (GSD IV), also called Andersen disease, or amylopectinosis, is a highly heterogeneous autosomal recessive disorder caused by a glycogen branching enzyme (GBE, 1,4-alpha-glucan branching enzyme) deficiency secondary to pathogenic variants on GBE1 gene. The incidence is evaluated to 1:600 000 to 1:800 000 of live births. GBE deficiency leads to an excessive deposition of structurally abnormal, amylopectin-like glycogen in affected tissues (liver, skeletal muscle, heart, nervous system, etc.). Diagnosis is often guided by histological findings and confirmed by GBE activity deficiency and molecular studies. Severe neuromuscular forms of GSD IV are very rare and of disastrous prognosis. Identification and characterization of these forms are important for genetic counseling for further pregnancies. Here we describe clinical, histological, enzymatic, and molecular findings of 10 cases from 8 families, the largest case series reported so far, of severe neuromuscular forms of GSD IV along with a literature review. Main antenatal features are: fetal akinesia deformation sequence or arthrogryposis/joint contractures often associated with muscle atrophy, decreased fetal movement, cystic hygroma, and/or hydrops fetalis. If pregnancy is carried to term, the main clinical features observed at birth are severe hypotonia and/or muscle atrophy, with the need for mechanical ventilation, cardiomyopathy, retrognathism, and arthrogryposis. All our patients were stillborn or died within 1 month of life. In addition, we identified five novel GBE1 variants.
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