Child ; China ; Consensus ; Glycogen Storage Disease ; Glycogen Storage Disease Type I ; Glycogen Storage Disease Type II ; Glycogen Storage Disease Type III ; Humans

No abstract available.
Glycogen Storage Disease Type V* ; Glycogen Storage Disease* ; Glycogen* ; Humans ; Rhabdomyolysis* ; Seizures*

No abstract available.
Glycogen Storage Disease Type I*

Glycogen storage disease (GSD) IV is a rare autosomal recessive inherited disorder caused by mutations in the gene coding for glycogen branching enzyme leading to progressive liver disease. GSD IV is associated with mutations in GBE1, which encodes the glycogen branching enzyme. We report a case of GSD IV with rare homozygous mutations in the GBE1 gene (c.791G>A (p.Gly264Glu), which was successfully treated by liver transplantation.
1,4-alpha-Glucan Branching Enzyme* ; Clinical Coding ; Glycogen Storage Disease Type IV ; Glycogen Storage Disease* ; Glycogen* ; Liver Diseases ; Liver Transplantation

Humans ; Glycogen Storage Disease Type II/therapy*

Glycogen storage disease is a rare metabolic disorder of significant to the anesthesiologist. The term "glycogen storage disease" is applied to a group of congenital and familial disorders characterised by depostion of abnormally large or small quantities of glycogen in the tissues. 13 types of glycogen storage diseases have been described, classified on the basis of enzyme deficiencies. Type l glycogen storage disease (von Gierke's Disease) is the most common of this constellation of syndromes. The basic defect is a deficiency of enzyme, glucose-6-phosphatase. The patient has hepatomegaly, renomegaly, stunted growth, a tend toward severe hypoglycemia and acidoais. The adverse effect of the combined anesthetic and surgical procedure during operation was reflected in a deterioration of the patients's biochemical parameters. A cardiac arrest after tonsillectomy of the patient with Von Gierke's disease was reported and this fact cmphasizes serious anesthetic problems during operation. Anesthetic management of these patients should focus on prevention of hypoglycemia and lactic acidosis. The careful frequent measuring of the acid-base status is highly recommended and is essential prior to and during andy surgical procedure. We report a case of anesthetic management for a patient with Von Gierke's desease ane review anesthetic problems for these patients.
Acidosis, Lactic ; Glucose-6-Phosphatase ; Glycogen ; Glycogen Storage Disease ; Glycogen Storage Disease Type I ; Heart Arrest ; Hepatomegaly ; Humans ; Hypoglycemia ; Tonsillectomy

Glycogen Storage Disease ; Glycogen Storage Disease Type II ; complications ; Humans ; Hypertension, Pulmonary ; etiology

McArdle's disease is a disorder of carbohydrate metabolism, which is inhented as an autosomal recessive or occasionally an autosomal dominant trait. Hallmark of clinical features is exercise intolerence, I.e. muscle pain following strenuous exercise. Electrophysiologically insertion of an EMG needle shows that there is no electrical activity, differentiating this contracture from a muscle cramp. Histological examination of muscle biopsy specimen shows increase in glycogen and the presence of subsarcolemrnal blebs. We report a 23-year-old, male patient who presented clinical, electrophysiological, and histological findings compatible with McArdle's disease.
Biopsy ; Blister ; Carbohydrate Metabolism ; Contracture ; Glycogen ; Glycogen Storage Disease Type V* ; Humans ; Male ; Muscle Cramp ; Myalgia ; Needles ; Young Adult

Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficient glycogen branching enzyme (GBE), encoded by the GBE1 gene, resulting in the accumulation of abnormal glycogen deposits in the liver and other tissues. We treated a 20-month-old girl who presented with progressive liver cirrhosis and was diagnosed with GSD-IV, as confirmed by GBE1 gene mutation analysis, and underwent living related heterozygous donor liver transplantation. Direct sequencing of the GBE1 gene revealed that the patient was compound heterozygous for a known c.1571G>A (p.Gly264Glu) mutation a novel c.791G> A (Arg524Gln) mutation. This is the first report of a Korean patient with GSD-IV confirmed by mutation analysis, who was treated successfully by liver transplantation.
1,4-alpha-Glucan Branching Enzyme ; Child ; Glycogen ; Glycogen Storage Disease ; Glycogen Storage Disease Type IV ; Humans ; Infant ; Liver ; Liver Cirrhosis ; Liver Transplantation ; Living Donors ; Tissue Donors

Liver cell adenoma is uncommon and most often affects women of reproductive age; it is often associated with use of oral contraceptives. It is a very rare benign tumor of the liver in males and associated with use of anabolic steroids or glycogen storage disease type I. The surgical treatment remains controversial. We experienced 3 cases of male liver cell adenoma without use of anabolic steroids or glycogen storage disease. We performed right lobectomy of liver in 2 cases of mass on right lobe and performed mass enucleation with cholecystectomy in another case of mass on left medial segment.
Adenoma, Liver Cell* ; Cholecystectomy ; Contraceptives, Oral ; Female ; Glycogen Storage Disease ; Glycogen Storage Disease Type I ; Humans ; Liver* ; Male* ; Steroids