Enzymes of Glycogen Metabolism in Human Skin with Particular Reference to Differential Diagnosis of the Glycogen Storage Diseases

1971 ◽  
Vol 40 (3) ◽  
pp. 261-269 ◽  
Author(s):  
P. D. Leathwood ◽  
Brenda E. Ryman
Keyword(s):  
Glycogen Storage Disease ◽  
Glycogen Phosphorylase ◽  
Storage Disease ◽  
Glycogen Metabolism ◽  
Glycogen Storage ◽  
Debranching Enzyme ◽  
Epidermal Tissue ◽  
Glycogen Storage Diseases ◽  
Muscle Phosphorylase ◽  
Type V

1. A vacuum skin-blistering technique has been successfully applied and the human epidermal tissue so obtained has been examined for glycogen content and some of the enzymes involved in glycogen metabolism. 2. Normal values for glycogen phosphorylase, acid α-glucosidase and amylo-1,6-glucosidase (debranching enzyme) in epidermis are reported. Glucose 6-phosphatase activity was not detected. 3. Examination of two patients with Type II glycogen storage disease (Pompe's Disease—lack of lysosomal acid α-glucosidase) revealed an absence of the acid α-glucosidase in their skin. 4. The enzymic lesion in Type V glycogen storage disease (McArdle's Disease—lack of muscle phosphorylase) was not reflected in the epidermal tissue of a patient and a normal level of the enzyme was observed.

scholarly journals Neurological Characteristics of Pediatric Glycogen Storage Disease

2021 ◽  
Vol 12 ◽  
Author(s):  
Julio Henrique Muzetti ◽  
Daniel Almeida do Valle ◽  
Mara L. S. Ferreira Santos ◽  
Bruno Augusto Telles ◽  
Mara L. Cordeiro
Keyword(s):  
Metabolic Control ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Metabolism ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Type I ◽  
Cross Sectional ◽  
Glycogen Storage Diseases ◽  
Multigene Panel

Glycogen storage diseases (GSD) encompass a group of rare inherited diseases due dysfunction of glycogen metabolism. Hypoglycemia is the most common primary manifestation of GSD, and disturbances in glucose metabolism can cause neurological damage. The aims of this study were to first investigate the metabolic, genetic, and neurological profiles of children with GSD, and to test the hypothesis whether GSD type I would have greater neurological impact than GSD type IX. A cross-sectional study was conducted with 12 children diagnosed with GSD [Types: Ia (n=5); 1, Ib (n=1); 4, IXa (n=5); and 1, IXb (n=1)]. Genetic testing was conducted for the following genes using multigene panel analysis. The biochemical data and magnetic resonance imaging of the brain presented by the patients were evaluated. The criteria of adequate metabolic control were adopted based on the European Study on Glycogen Storage Disease type I consensus. Pathogenic mutations were identified using multigene panel analyses. The mutations and clinical chronology were related to the disease course and neuroimaging findings. Adequate metabolic control was achieved in 67% of patients (GSD I, 43%; GSD IX, 100%). Fourteen different mutations were detected, and only two co-occurring mutations were observed across families (G6PC c.247C>T and c.1039C>T). Six previously unreported variants were identified (5 PHKA2; 1 PHKB). The proportion of GSD IX was higher in our cohort compared to other studies. Brain imaging abnormalities were more frequent among patients with GSD I, early-symptom onset, longer hospitalization, and inadequate metabolic control. The frequency of mutations was similar to that observed among the North American and European populations. None of the mutations observed in PHKA2 have been described previously. Therefore, current study reports six GSD variants previously unknown, and neurological consequences of GSD I. The principal neurological impact of GSD appeared to be related to inadequate metabolic control, especially hypoglycemia.

scholarly journals The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1205
Author(s):  
Sarah Catharina Grünert ◽  
Luciana Hannibal ◽  
Ute Spiekerkoetter
Keyword(s):  
Liver Cirrhosis ◽  
Glycogen Storage Disease ◽  
Glycogen Phosphorylase ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Hepatic Glycogen ◽  
Laboratory Findings ◽  
Poor Growth

Glycogen storage disease type VI (GSD VI) is an autosomal recessive disorder of glycogen metabolism due to mutations in the glycogen phosphorylase gene (PYGL), resulting in a deficiency of hepatic glycogen phosphorylase. We performed a systematic literature review in order to collect information on the clinical phenotypes and genotypes of all published GSD VI patients and to compare the data to those for GSD IX, a biochemically and clinically very similar disorder caused by a deficiency of phosphorylase kinase. A total of 63 genetically confirmed cases of GSD VI with clinical information were identified (median age: 5.3 years). The age at presentation ranged from 5 weeks to 38 years, with a median of 1.8 years. The main presenting symptoms were hepatomegaly and poor growth, while the most common laboratory findings at initial presentation comprised elevated activity of liver transaminases, hypertriglyceridemia, fasting hypoglycemia and postprandial hyperlactatemia. Liver biopsies (n = 37) showed an increased glycogen content in 89.2%, liver fibrosis in 32.4% and early liver cirrhosis in 10.8% of cases, respectively. No patient received a liver transplant, and one successful pregnancy was reported. Our review demonstrates that GSD VI is a disorder with broad clinical heterogeneity and a small number of patients with a severe phenotype and liver cirrhosis. Neither clinical nor laboratory findings allow for a differentiation between GSD VI and GSD IX. Early biochemical markers of disease severity or clear genotype phenotype correlations are missing. Given the overall benign and unspecific phenotype and the need for enzymatic or genetic analyses for confirmation of the diagnosis, GSD VI is likely underdiagnosed. With new treatment approaches in sight, early, pre-symptomatic diagnosis, especially with respect to hepatic cirrhosis, will become even more important.

DISORDERS OF GLYCOGEN METABOLISM

PEDIATRICS ◽  
1952 ◽  
Vol 9 (3) ◽  
pp. 263-279
Author(s):  
WILLIAM H. LANGEWISCH ◽  
JOHN A. BIGLER
Keyword(s):  
Glycogen Storage Disease ◽  
Adrenocorticotropic Hormone ◽  
Storage Disease ◽  
Glycogen Metabolism ◽  
Glycogen Storage ◽  
Laboratory Evidence ◽  
Physical Findings ◽  
Treatment Prognosis

Five cases have been presented with evidence of disordered glycogen metabolism. Two cases of glycogen storage disease of the liver are included which were confirmed by biopsy, together with clinical and laboratory evidence. Treatment of one of the cases with adrenocorticotropic hormone resulted in a disappearance of hypoglycemia and acetonuria during the period of therapy. Two cases of glycogen storage disease of the heart are reported together with clinical histories and necropsy reports. An ECG which was recorded on one of the patients is included. A case of galactosemia is reported together with extensive laboratory evidence of marked galactose intolerance. The criteria for the diagnosis of these entities are reviewed and the symptomatology, physical findings, treatment, prognosis and pathologic manifestations are discussed.

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