No abstract available.
Glycogen Storage Disease* ; Glycogen*

No abstract available.
Glycogen Storage Disease*

Glycogen storage disease (GSD) type IXa, due to a deficiency of hepatic phosphorylase b kinase, results in liver enlargement, growth retardation and fasting ketosis. Many are asymptomatic and do not require treatment. This is the first documented GSD IXa in a Filipino boy evaluated for short stature.
Glycogen Storage Disease ; Hepatomegaly

No abstract available.
Glycogen Storage Disease Type I*

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

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

Humans ; Glycogen Storage Disease Type II/therapy*

Primary metabolic myopathy as a type of congenital myopathies was first described by McArdle in 1951. Glycogen storage disease is a disease caused by genetic mutations involved in glycogen synthesis, glycogenolysis or glycolysis. Several types of glycogen storage disease are known to cause metabolic myopathies. We report a case of adult onset metabolic myopathy with glycogen storage.
Adult* ; Glycogen Storage Disease ; Glycogen* ; Glycogenolysis ; Glycolysis ; Humans ; Muscular Diseases*

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