No abstract available.
Glycogen Storage Disease Type I*

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

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

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

Glycogen storage disease (GSD) type Ia is a rare inherited metabolic disease characterized by glucose-6-phosphatase (G6Pase) deficiency, which results in many metabolic problems, such as fasting hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia. The metabolic derangements may result in long-term complications, including growth retardation, gout, hepatic adenomas, and renal disease. A 26-year-old male was admitted with general weakness, multiple subcutaneous mass-like lesions, and hepatomegaly. He was diagnosed as GSD type Ia through analysis of the G6Pase gene. This disease is found mainly in childhood, but we diagnosed a case of GSD type Ia during a work-up of arthralgia and hepatomegaly in an adult patient. We report this case with a review of the literature
Acidosis, Lactic ; Adenoma ; Adult ; Arthralgia ; Glucose-6-Phosphatase ; Glycogen ; Glycogen Storage Disease ; Glycogen Storage Disease Type I ; Gout ; Hepatomegaly ; Humans ; Hyperlipidemias ; Hyperuricemia ; Hypoglycemia ; Male ; Metabolic Diseases

OBJECTIVE: To explore the clinical and genetic characteristics of a Chinese pedigree affected by glycogen storage disease (GSD) type Ia with gout as the first manifestation. METHODS: Clinical and biochemical data of the pedigree were collected. Available members of the pedigree were subjected to gene sequencing, and the result was analyzed by bioinformatics software. The pedigree was followed up for five years. RESULTS: The proband was a young female manifesting recurrent gout flare, hypoglycemia, and hypertriglyceridemia. One of her younger brothers also presented with dysplasia and hepatic adenoma. Gene sequencing revealed that the proband and her younger brother both harbored c.1022T>A (p.I1e341Asn) and c.230+5G>A compound heterozygous variants of the G6PC gene , which were inherited from their father and mother, respectively. Among these, the c.230+5G>A is an intron region variant which was unreported previously, and bioinformatics analysis showed that it may impact mRNA splicing of the gene. The proband was treated with raw corn starch, allopurinol, and fenofibrate. Gout was well controlled, and she had given birth to a baby girl without GSD. CONCLUSION GSD Ia should be considered among young gout patients with hypoglycemia and hepatomegaly, for which gene sequencing is warranted. GSD Ia has a good prognosis after comprehensive treatment with diet and medicine.
China ; Female ; Glycogen Storage Disease Type I ; Gout/genetics* ; Humans ; Hypoglycemia ; Male ; Pedigree ; Symptom Flare Up

A 24-year-old male was admitted due to recurrent redness, swelling, fever and pain in the ankle, frequently accompanied by hungry feeling. Dual energy CT scans showed multiple small gouty stones in the posterior edge of the bilateral calcaneus and in the space between the bilateral metatarsophalangeal joints. The laboratory examination results indicated hyperlipidemia, high lactate lipids, and low fasting blood glucose. Histopathology of liver biopsy showed significant glycogen accumulation. The results of gene sequencing revealed the compound heterozygous mutations of the <i>G6PCi> gene c.248G>A (p.Arg83His) and c.238T>A (p.Phe80Ile) in the proband. The c.248G>A mutation was from mother and the c.238T>A mutation was from father. The diagnosis of glycogen storage disease type Ⅰa was confirmed. After giving a high starch diet and limiting monosaccharide intake, as well as receiving uric acid and blood lipids lowering therapy, the condition of the patient was gradually stabilized. After a one-year follow-up, there were no acute episodes of gout and a significant improvement in hungry feeling in the patient.
Male ; Humans ; Young Adult ; Adult ; Glycogen Storage Disease Type I/genetics* ; Gout/genetics* ; Mutation ; Lipids

Cryptococcosis ; etiology ; pathology ; Glycogen Storage Disease Type I ; complications ; pathology ; Humans ; Infant ; Male ; Meningitis, Fungal ; etiology ; pathology

OBJECTIVETo investigate the mutation of glucose-6-phosphatase gene (G6PC gene) in a patient with glycogen storage disease Ⅰa.

METHODSPCR was used to amplify all five exons of G6PC gene. The PCR products were directly sequenced to detect the mutations.

RESULTSA heterozygous 743G>A mutation was found in the patient and his mother, resulting in the substitution of glycine (G) by arginine (R) in codon 222(G222R) in the putative membrane-spanning domain in human G6Pase, but not in his father and his sister.

CONCLUSIONSG222R mutation in G6PC gene was first identified in a patient with glycogen storage disease Ⅰa in mainland China.

von Gierke disease (type Ia glycogen storage disease) is an inherited disease associated with accumulation of glycogen in the liver, kidney, intestine and erythrocytes due to the defect of glucose-6-phosphatase activity. Hepatomegaly, doll face, anemia, bleeding tendency and increased susceptability to infection are common features observed during infancy. Hypoglycemia especially fasting hypoglycemia is typical metabolic derangement in this disease, followed by metabolic acidosis, lactic acidemia, hyperlipidemia, hyperuricemia, and platelets dysfunction. We experienced a case of von Gierke disease in 6 month-old boy with doll face, hepatomegaly, fasting hypoglycemia, acidosis, anemia, hyperlipidemia, hyperuricemia, and acetonuria. Diagnosis was confirmed by light- and electron microscopic examination of liver biopsy specimen, which revealed hepatocytes filled with dense pools of glycogen and many lipid droplets. Cornstarch dietary therapy for him had favorable responses showing improvement of hypoglycemia, other metabolic derangements, and regression of hepatomegaly.
Acidosis ; Anemia ; Biopsy ; Diagnosis ; Erythrocytes ; Glucose-6-Phosphatase ; Glycogen ; Glycogen Storage Disease Type I* ; Hemorrhage ; Hepatocytes ; Hepatomegaly ; Humans ; Hyperlipidemias ; Hyperuricemia ; Hypoglycemia ; Infant ; Intestines ; Ketosis ; Kidney ; Liver ; Male ; Starch