GALACTOSE TOLERANCE IN GLYCOGEN STORAGE DISEASE

PEDIATRICS ◽  
1957 ◽  
Vol 19 (4) ◽  
pp. 585-595
Author(s):  
Robert Schwartz ◽  
James Ashmore ◽  
Albert E. Renold
Keyword(s):  
Lactic Acidosis ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Tolerance Test ◽  
Glycogen Storage ◽  
Laboratory Findings ◽  
Galactose Tolerance ◽  
Galactose Tolerance Test

Observations on a 3-month old infant with hypoglycemia and hepatomegaly from hepatorenal glycogen storage disease are reported. The diagnosis was based on analysis of the liver as well as typical clinical and laboratory findings. The liver histologically showed accumulation of glycogen and fat and biochemically was found to be deficient in glucose-6-phosphatase. An oral galactose tolerance test resulted in lactic acidosis with failure to detect any galactose or rise in concentration of glucose in the blood. An intravenous galactose tolerance test on two occasions resulted in the normal disappearance of galactose; however the concentration of glucose remained unchanged or declined, and that of lactate rose. The intravenous galactose test offers a further means for evaluating the glycolytic pathways in the liver in glycogen storage disease.

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.

Liver Glycogenosis Caused by a Defective Phosphorylase System: Hemolysate Analysis

PEDIATRICS ◽  
1981 ◽  
Vol 67 (1) ◽  
pp. 107-112
Author(s):  
C. Baussan ◽  
N. Moatti ◽  
M. Odievre ◽  
A. Lemonnier
Keyword(s):  
Glycogen Storage Disease ◽  
Kinase Activity ◽  
Storage Disease ◽  
Tolerance Test ◽  
Glycogen Storage ◽  
Enzyme Assays ◽  
Phosphorylase Kinase ◽  
Phosphorylase Activity ◽  
Activation Curve ◽  
Glucosidase Activity

Investigated were 24 cases of glycogenosis caused by a reduction in liver phosphorylase activity. The intravenous glucagon tolerance test could not discriminate between phosphorylase kinase deficiency [glycogen storage disease (GSD) IX] and phosphorylase deficiency (GSD VI). These two subgroups were distinguished by hemolysate enzyme assays: (1) GSD IX was characterized by a residual phosphorylase kinase activity, a low activation curve for endogenous phosphorylase b and increased amylo-1,6-glucosidase activity. (2) GSD VI was characterized by a normal or increased phosphorylase kinase activity, a slight activation of endogenous phosphorylase b and a normal amylo-1,6-glucosidase activity.

scholarly journals P0235 / #981: EXTRACORPOREAL MEMBRANE OXYGENATION AS A TREATMENT FOR REFRACTORY LACTIC ACIDOSIS DUE TO GLYCOGEN STORAGE DISEASE TYPE 1A: A CASE REPORT

2021 ◽  
Vol 22 (Supplement 1 3S) ◽  
pp. 138-138
Author(s):  
J. Rodriguez Coronado ◽  
J. Saldivar Martinez ◽  
R. Gomez Gutierrez ◽  
G. Quezada Valenzuela ◽  
M. Contreras Cepeda ◽  
...  
Keyword(s):  
Case Report ◽  
Lactic Acidosis ◽  
Extracorporeal Membrane Oxygenation ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Membrane Oxygenation

Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease

1996 ◽  
Vol 19 (1) ◽  
pp. 51-58 ◽  
Author(s):  
A. McConkie-Rosell ◽  
C. Wilson ◽  
D. A. Piccoli ◽  
J. Boyle ◽  
T. De Clue ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage ◽  
Laboratory Findings ◽  
Type Iv

Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III

2008 ◽  
Vol 46 (9) ◽  
Author(s):  
Sue-Hyun Oh ◽  
Hyung-Doo Park ◽  
Chang-Seok Ki ◽  
Yon-Ho Choe ◽  
Soo-Youn Lee
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Direct Sequencing ◽  
Elevated Serum ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Laboratory Findings ◽  
Korean Patients ◽  
Type Iii

Abstract: Glycogen storage disease type III (GSD-III) is an inborn error of glycogen metabolism caused by a deficiency of the glycogen debranching enzyme, amylo-1,6-glucosidase,4-α-glucanotransferase (AGL). Here, we describe two unrelated Korean patients with GSD-III and review their clinical and laboratory findings.: The patients were 18- and 11-month-old girls. They presented with hepatosplenomegaly, developmental delay and hypotonia. The routine laboratory findings showed an elevated serum aspartate aminotransferase, alanine aminotransferase, creatine kinase and triglyceride levels. The blood lactate and uric acid levels were within normal limits. PCR and direct sequencing were performed to determine genetic findings.: Glycogen quantitation was markedly increased and AGL activity was undetectable in both patients. Sequence analysis of the: GSD-III should be ruled out when a patient presents with hepatic abnormalities, hypoglycemia, myopathy and hyperlipidemia. This is the first report of confirmation of GSD-III in Korean patients by biochemical and genetic findings.Clin Chem Lab Med 2008;46:1245–9.

Multidisciplinary management of pregnancy and labour in a patient with glycogen storage disease type 1a

2021 ◽  
Vol 14 (8) ◽  
pp. e241161
Author(s):  
Alice May Jones ◽  
Clare Tower ◽  
Diane Green ◽  
Karolina M Stepien
Keyword(s):  
Lactic Acidosis ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Unplanned Pregnancy ◽  
Tube Feeding ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Percutaneous Endoscopic Gastrostomy Tube ◽  
Endoscopic Gastrostomy

Glycogen storage disease type 1a (GSD 1a) is a metabolic disorder caused by deficiency of an enzyme required for glycogen breakdown, causing hypoglycaemia and lactic acidosis. Metabolic derangements cause disease manifestations affecting the kidneys, liver and platelet function. Physiological changes in pregnancy worsen fasting intolerance and increase reliance on exogenous glucose to avoid lactic acidosis. Fetal macrosomia and declining respiratory function result in high rates of caesarean sections. We report the multidisciplinary team (MDT) management of a 25-year-old woman with GSD 1a in an unplanned pregnancy. Existing percutaneous endoscopic gastrostomy tube feeding, alongside high-calorie drinks and intravenous dextrose during labour, managed the risks of hypoglycaemia and lactic acidosis. Metabolic parameters were regularly monitored and fortnightly growth scans were assessed for macrosomia. Allopurinol was continued throughout the pregnancy to reduce the risk of hyperuricaemia. MDT management optimised maternal and fetal care throughout pregnancy and labour, resulting in a successful vaginal delivery.

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