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 I*

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

Diseases of inborn errors of metabolism (IEMs) are very rare but the overall prevalence of IEMs is not low, and in the United States, about 5~10% of admitted patients have some genetic predispositions. Clinical manifestations of IEMs are very diverse, but most frequent manifestations are neurological symptoms and signs. IEMs in Korea have been underestimated because of prejudice, underdevelopment of diagnostic tools and ignorance. The Korean Pediatric Society has done a retrospective study in order to know the relative incidence of IEMs in 2001. All hospitals with over 100 beds participated in the study. The most frequent disease was Wilson disease (201 cases for 10 years) followed by phenylketonuria (98 cases for 10 years) and Hunters disease (69 cases for 10 years). Disorders of mineral metabolism were the most frequently diagnosed disease groups (252 cases for 10 years) followed by organic acidopathies (220 cases), aminoacidopathies (139 cases), mucopolysaccharidosis (131 cases), disorders of carbohydrate metabolism (84 cases), sphingolipidosis (69 cases), urea cycle disorders (39 cases), peroxisomal disorders (27 cases), porphyrias (16 cases), disorders of purine and pyrimidine metabolism (14 cases), disorders of membrane transport (13 cases), fatty acid oxidation disorders (9 cases), oligosaccharidosis (2 cases), and mucolipidosis (1 case). Clearly, Koreans are not protected from IEMs and a systematic approach is needed to make diagnosis more easy and accurate.
Brain Diseases, Metabolic, Inborn ; Carbohydrate Metabolism ; Diagnosis ; Genetic Predisposition to Disease ; Hepatolenticular Degeneration ; Humans ; Incidence ; Korea* ; Membranes ; Metabolism ; Metabolism, Inborn Errors* ; Mucolipidoses ; Mucopolysaccharidoses ; Peroxisomal Disorders ; Phenylketonurias ; Porphyrias ; Prejudice ; Prevalence ; Retrospective Studies ; Sphingolipidoses ; United States ; Urea Cycle Disorders, Inborn

Humans ; Glycogen Storage Disease Type II/therapy*

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

Child ; Humans ; Carbohydrate Metabolism, Inborn Errors ; Microcephaly ; Psychomotor Disorders ; Seizures

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

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

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