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Introduction to lactic acidemias
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
A postprandial rise in lactate (greater than two-fold) occurs in pyruvate dehydrogenase deficiency and also in glycogen storage diseases types 0, III, and VI/IX. In primary defects of the respiratory chain, the redox state may become more abnormal; in addition, there may even be a rise of total ketone bodies (paradoxical ketonemia). A postprandial fall of lactate occurs in glycogen storage disease type I and defects of gluconeogenesis. In glycogen synthase deficiency, concentrations of lactate and alanine are low when the patient is hypoglycemic, but feeding or a glucose tolerance test leads to elevated amounts of lactate, as well as hyperglycemia.
Metabolic Diseases
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Stephanie Grünewald, Alex Broomfield, Callum Wilson
Children with glycogen storage disease type I (GSDI) usually present in infancy with failure to thrive, abdominal distension secondary to hepatomegaly and/or symptoms of hypoglycaemia. The latter can occur after a short fast, yet the child, especially in early infancy, may surprisingly be asymptomatic. On examination there is often massive hepatomegaly (Fig. 14.15), truncal obesity, short stature, mild hypotonia and a ‘doll-like’ face.
Platelet Disorders Douglas Triplett
Published in Genesio Murano, Rodger L. Bick, Basic Concepts of Hemostasis and Thrombosis, 2019
A mild bleeding disorder has been reported in patients with glycogen storage disease type I (deficiency of glucose 6-phosphatase).142 Laboratory evaluation of platelet function has included the following: prolonged bleeding time, deficiency in platelet factor 3 activity, and abnormalities in aggregation with both ADP and collagen suggesting a release problem. This may be an acquired disorder secondary to the abnormal glycogen metabolism, because when these patients are appropriately treated, the platelet abnormalities can be corrected.
Stereotactic radiofrequency ablation as a valid first-line treatment option for hepatocellular adenomas
Published in International Journal of Hyperthermia, 2022
Gregor Laimer, Peter Schullian, Yannick Scharll, Daniel Putzer, Gernot Eberle, Georg Oberhuber, Reto Bale
Fourteen patients (10 females/4 males) with a mean age of 34.4 years (range, 17–73), having 38 hepatocellular adenomas were included in this analysis. Among these patients, nine were treated for a solitary tumor, while the remaining were treated for 2, 3, 4, 5, and 15 tumors, respectively; four patients (28.6%) had nonalcoholic steatohepatitis (NASH) and three (21.4%) had glycogen storage disease type I (GSD I) as the main risk factor for developing hepatocellular adenoma(s). All the patients underwent a biopsy for at least one of the treated adenomas. Only 2 patients (14.3%) underwent biopsy before SRFA, whereas the remaining 12 (85.7%) underwent histologic confirmation during SRFA due to unclear MR findings and hepatocellular carcinoma could not be ruled out (5 [35.7%]), or to confirm the diagnosis of a strongly suspected adenoma (7 [50%]). The histological subtypes included unclassified (9 [64.3%]), inflammatory (2 [14.3%]), β-Catenin activated (2 [14.3%]), and HNF-1α inactivated (1 [7.1%]) HCA. Twelve patients underwent a single ablation session, while the remaining two patients underwent three ablation sessions each, for 5 and 15 adenomas, respectively (Table 1). During a median follow-up of 49.6 months, none of the patients in this study succumbed to the disease (i.e., event), and no instances of malignant transformation or adenoma-related hemorrhages were observed. Two patients developed distant new tumors (14.2%), who were successfully retreated with SRFA. The disease-free survival rates at 1, 3, and 5 years from the date of the first SRFA were 100%, 85.8%, and 85.8%, respectively.
Platelet glycogenolysis is important for energy production and function
Published in Platelets, 2023
Kanakanagavalli Shravani Prakhya, Hemendra Vekaria, Daniёlle M. Coenen, Linda Omali, Joshua Lykins, Smita Joshi, Hammodah R. Alfar, Qing Jun Wang, Patrick Sullivan, Sidney W. Whiteheart
The clinical effects of dysregulated platelet glycogen metabolism are implied from the pathologies seen in glycogen storage disease patients. Glycogen storage disease Type I (GSDIa), aka von Gierke’s disease, is an autosomal recessive disease with a deficiency of glucose-6-phosphatase in the liver, kidney, and intestine. It is characterized by hepatomegaly, hypoglycemia, lactic acidosis, hyperlipidemia, hyperuricemia, and a bleeding diathesis.6–9 The bleeding diathesis is associated with prolonged bleeding time and a qualitative platelet defect.6 While this bleeding could be due to hepatic damage and poor coagulation factor production, platelet dysfunction could also contribute.6,10