Branching Enzyme Deficiency

Paradas, Carmen; Akman, Hasan O.; Ionete, Carolina; Lau, Heather; Riskind, Peter; Jones, David; Smith, Thomas W.; Hirano, Michio; DiMauro, Salvatore

doi:10.1001/jamaneurol.2013.4888

Cited by 43 publications

(12 citation statements)

References 17 publications

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“…Typically, this can lead to bladder incontinence, followed by gait disturbance and lower limb paresthesias. A subset of individuals (usually beyond 30 years of age) with decreased GBE1 activity, may present with Adult Polygluosan Body Disease, affecting the central and peripheral nervous systems (Paradas, et al 2014).…”

Section: Type Iv: Glycogen Branching Enzyme Deficiency (Andersen’s DImentioning

confidence: 99%

Biochemical and clinical aspects of glycogen storage diseases

Ellingwood¹,

Cheng²

2018

Journal of Endocrinology

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The synthesis of glycogen represents a key pathway for the disposal of excess glucose while its degradation is crucial for providing energy during exercise and times of need. The importance of glycogen metabolism is also highlighted by human genetic disorders that are caused by mutations in the enzymes involved. In this review, we provide a basic summary on glycogen metabolism and some of the clinical aspects of the classical glycogen storage diseases. Disruptions in glycogen metabolism usually result in some level of dysfunction in the liver, muscle, heart, kidney and/or brain. Furthermore, the spectrum of symptoms observed is very broad, depending on the affected enzyme. Finally, we briefly discuss an aspect of glycogen metabolism related to the maintenance of its structure that seems to be gaining more recent attention. For example, in Lafora progressive myoclonus epilepsy, patients exhibit an accumulation of inclusion bodies in several tissues, containing glycogen with increased phosphorylation, longer chain lengths and irregular branch points. This abnormal structure is thought to make glycogen insoluble and resistant to degradation. Consequently, its accumulation becomes toxic to neurons, leading to cell death. Although the genes responsible have been identified, studies in the past two decades are only beginning to shed light into their molecular functions.

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Section: Type Iv: Glycogen Branching Enzyme Deficiency (Andersen’s DImentioning

confidence: 99%

Biochemical and clinical aspects of glycogen storage diseases

Ellingwood¹,

Cheng²

2018

Journal of Endocrinology

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“…To clarify this ambiguity, we suggest that NP-GSD IV and APBD are overlapping each other. Paradas et al reported a case of GSD IV (homozygote of p.Arg515His mutation in GBE1 ), which was compatible with both NP-GSD IV and APBD [ 28 ]. This female patient had undergone liver biopsy at 2 years of age because of hepatomegaly and elevated transaminase levels, which revealed glycogen accumulation.…”

Section: Discussionmentioning

confidence: 99%

“…The juvenile form is dominated by myopathy or cardiomyopathy with pubertal or young adult onset [ 5 , 25 ]. The adult form, also known as adult polyglucosan body disease (APBD), is characterized by adult-onset multisystem disorder including myopathy or neurological involvement such as neurogenic bladder, seizure, or spastic paraplegia with vibration loss and numbness [ [26] , [27] , [28] , [29] , [30] , [31] , [32] ].…”

Section: Introductionmentioning

confidence: 99%

Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review

Iijima

Iwano

Tanaka

et al. 2018

Molecular Genetics and Metabolism Reports

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BackgroundGlycogen storage disease type IV (GSD IV), caused by GBE1 mutations, has a quite wide phenotypic variation. While the classic hepatic form and the perinatal/neonatal neuromuscular forms result in early mortality, milder manifestations include non-progressive form (NP-GSD IV) and adult polyglucosan body disease (APBD). Thus far, only one clinical case of a patient with compound heterozygous mutations has been reported for the molecular analysis of NP-GSD IV. This study aimed to elucidate the molecular basis in a NP-GSD IV patient via protein expression analysis and to obtain a clearer genotype-phenotype relationship in GSD IV.Case presentationA Japanese boy presented hepatosplenomegaly at 2 years of age. Developmental delay, neurological symptoms, and cardiac dysfunction were not apparent. Observation of hepatocytes with periodic acid-Schiff-positive materials resistant to diastase, coupled with resolution of hepatosplenomegaly at 8 years of age, yielded a diagnosis of NP-GSD IV. Glycogen branching enzyme activity was decreased in erythrocytes. At 13 years of age, he developed epilepsy, which was successfully controlled by carbamazepine.Molecular analysisIn this study, we identified compound heterozygous GBE1 mutations (p.Gln46Pro and p.Glu609Lys). The branching activities of the mutant proteins expressed using E. coli were examined in a reaction with starch. The result showed that both mutants had approximately 50% activity of the wild type protein.ConclusionThis is the second clinical report of a NP-GSD IV patient with a definite molecular elucidation. Based on the clinical and genotypic overlapping between NP-GSD IV and APBD, we suggest both are in a continuum.

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“…It leads to liver fibrosis and portal hypertension which manifests as ascites and eventually leads to death. However, several cases of non-available hepatic GSD IV have also been reported in the literature [ 51 ].…”

Section: Gsd Type IVmentioning

confidence: 99%

Hepatic glycogen storage diseases: pathogenesis, clinical symptoms and therapeutic management

Szymańska

Jóźwiak-Dzięcielewska

Gronek

et al. 2021

Arch Med Sci

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Glycogen storage diseases (GSDs) are genetically determined metabolic diseases that cause disorders of glycogen metabolism in the body. Due to the enzymatic defect at some stage of glycogenolysis/glycogenesis, excess glycogen or its pathologic forms are stored in the body tissues. The first symptoms of the disease usually appear during the first months of life and are thus the domain of pediatricians. Due to the fairly wide access of the authors to unpublished materials and research, as well as direct contact with the GSD patients, the article addresses the problem of actual diagnostic procedures for patients with the suspected diseases. Knowledge and awareness of the problem among physicians seem insufficient, and research on the diagnosis and treatment of GSD is still ongoing, resulting in a heterogeneous GSD typology and a changing way of its diagnosis and treatment.

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Branching Enzyme Deficiency

Cited by 43 publications

References 17 publications

Biochemical and clinical aspects of glycogen storage diseases

Biochemical and clinical aspects of glycogen storage diseases

Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review

Hepatic glycogen storage diseases: pathogenesis, clinical symptoms and therapeutic management

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