Glycogen storage disease type Ib

Glycogen storage disease type Ib has all the clinical manifestations of glycogen storage disease type Ia such as hepatomegaly, growth retardation, bleeding tendency, hypoglycemia, hyperlactacidemia, hyperuricemia, hyperlipidemia, impaired platelet function plus neutropenia. The overall glucose-6-phosphatase activity in disrupted microsomes from liver is normal whereas glucose-6-phosphate translocase, the first enzyme in the glucose-6-phosphate transport system is absent. There is no glucose-6-phosphatase activity in vivo. Recent results show that in granulocytes the glucose-6-phosphate-dependent hexosemonophosphate-shunt is impaired.Prof. Horst Bickel on the occasion of his 65th birthday     

Glycogen storage disease type III with hypoketosis

A rare case of glycogen storage disease type III with unusually absent ketone body production during hypoglycemia is presented. A 10-month-old boy presented with asymptomatic hepatomegaly. GOT/GPT 2555/1160 IU/L, CK 302 IU/L, triglycerides 1223 mg/dL, cholesterol 702 mg/dL and uric acid 7.9 mg/dL. After a 9-hour fast, glucose was 27 mg/dL and adequate lipolysis without ketogenesis was observed (total/free carnitine 34.5/20 micromol/L, free fatty acids 1620 micromol/L and beta-hydroxybutyrate 172 micromol/L). Result of MCT (medium-chain triglycerides) load test: basal hydroxybutyrate 29 micromol/L rose to 5748 micromol/L. Treatment with a fat-restricted diet supplemented with formula containing MCT was initiated and the patient presented a satisfactory initial evolution. Three months later, CK were 3000 IU/L. Muscle biopsy was diagnostic of glycogenosis. Enzymatic activity in skin fibroblasts was 0% for amylo-1,6-glucosidase. The diagnosis of glycogenosis type III was established. Echocardiography performed at that time showed non-obstructive ventricular hypertrophy. Until now hypoketosis during hypoglycemia has only been described in glycogenosis type I.     

Glycogen storage disease type Ib without neutropenia

We report 2 patients with atypical glycogen storage disease type Ib without neutropenia or infectious complications. Neither patient was deficient in hepatic glucose-6-phosphatase activities in microsome-disrupted homogenates; both had mutations in the glucose-6-phosphate transporter gene, suggesting an allelic variant of glycogen storage disease type Ib.     

Glycogen storage disease type Ib: familial bleeding tendency

A mild bleeding tendency with characteristics of the von Willebrand disease was documented in family members of a girl with glycogen storage disease type Ib (GSD) Ib). It was assumed that a defective glucose-6-phosphate dependent microsomal glycoprotein synthesis was involved in the bleeding disorder of the patient and the GSD Ib heterozygotes.Abbreviations GSD Ia glycogen storage disease type Ia - GSD Ib glycogen storage disease type Ib - G6P glucose-6-phosphate - G6P-ase glucose-6-phosphatase     

Glycogen storage disease type I: pathophysiology of liver adenomas

Of the many complications associated with glycogen storage disease type I, hepatic tumours cause great concern because of their malignant potential and the current difficulties in monitoring them. Hepatic adenomas occur in 22%–75% of affected adults, according to the population studied, and from those reported in the literature are thought to have an approximately 10% risk of undergoing malignant transformation. Their aetiology is unclear, but they occur generally in postpubertal patients, and can be either single or multiple. This article discusses theories of their aetiology, methods of detection and monitoring, and treatment options.Conclusion: the incidence of liver tumours in younger adults seems less than in older ones, suggesting that better dietary treatment, and thus improved metabolic control, may be protective. Surgery (partial hepatectomy or orthotopic liver transplantation) is the definitive therapy for these tumours, but the timing of this intervention is difficult to determine and it is not without its own hazards. Published online: 12 July 2002     

Glycogen storage disease type I: clinical and laboratory profile

ObjectivesTo characterize the clinical, laboratory, and anthropometric profile of a sample of Brazilian patients with glycogen storage disease type I managed at an outpatient referral clinic for inborn errors of metabolism.MethodsThis was a cross-sectional outpatient study based on a convenience sampling strategy. Data on diagnosis, management, anthropometric parameters, and follow-up were assessed.ResultsTwenty-one patients were included (median age 10 years, range 1–25 years), all using uncooked cornstarch therapy. Median age at diagnosis was 7 months (range, 1–132 months), and 19 patients underwent liver biopsy for diagnostic confirmation. Overweight, short stature, hepatomegaly, and liver nodules were present in 16 of 21, four of 21, nine of 14, and three of 14 patients, respectively. A correlation was found between height-for-age and BMI-for-age Z-scores (r = 0.561; p = 0.008).ConclusionsDiagnosis of glycogen storage disease type I is delayed in Brazil. Most patients undergo liver biopsy for diagnostic confirmation, even though the combination of a characteristic clinical presentation and molecular methods can provide a definitive diagnosis in a less invasive manner. Obesity is a side effect of cornstarch therapy, and appears to be associated with growth in these patients.     

Glycogen storage disease of the liver

Summary A case of Von Gierke’s disease with clinical features and investigations is described. The diagnosis, some theories of causation, and treatment are discussed. From the Institute of Child Health, Calcutta. Director, Dr. K. C. Chaudhuri.     

Glycogen storage disease type I: diagnosis and phenotype/genotype correlation

Glycogen storage disease type Ia (GSD Ia) is caused by mutations in theG6PC gene encoding the phosphatase of the microsomal glucose-6-phosphatase system. GSD Ia is characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, hyperlipidemia and short stature. Other forms of GSD I (GSD I non-a) are characterized by the additional symptom of frequent infections caused by neutropenia and neutrophil dysfunction. GSD I non-a is caused by mutations in a gene encoding glucose-6-phosphatase translocase (G6PT1). We report on the molecular genetic analyses of G6PC and G6PT 1 in 130 GSD Ia patients and 15 GSD I non-a patients, respectively, and provide an overview of the current literature pertaining to the molecular genetics of GSD I. Among the GSD Ia patients, 34 different mutations were identified, two of which have not been described before (A65P; F117C). Seventeen different mutations were detected in the GSD I non-a patients. True common mutations were identified neither in GSD Ia nor in GSD I non-a patients,Conclusion: Glycogen storage disease type Ia and and type I non-a are genetically heterogenous disorders. For the diagnosis of the various forms of glycogen storage disease type I, molecular genetic analyses are reliable and convenient alternatives to the enzyme assays in liver biopsy specimens. Some genotype-phenotype correlations exist, for example, homozygosity for oneG6PC mutation, G188R, seems to be associated with a glycogen storage disease type I non-a phenotype and homozygosity for the 727G>T mutation may be associated with a milder phenotype but an increased risk for hepatocellular carcinoma. Published online: 27 July 2002     

糖原累积病Ⅰ型并新型隐球菌性脑膜炎1例

1病例资料患儿,男,1岁2个月,因“发热6月余,发现肝大2月”于2005年6月5日入院。入院前6月无明显诱因下出现发热,多于下半夜开始体温升高,体温波动于38℃~39℃,最高达39.4℃。曾在当地医院反复住院,均以“支气管肺炎”抗感染治疗,但疗效欠佳。入院前2月在外院住院时发现肝大,实验室检查示空腹血糖2.2mmol/L,甘油三酯5.79mmol/L,乳酸脱氢酶(LDH)301U/L,胸片示支气管炎,诊断为①支气管炎;②糖原累积病(Ⅰ型)?予抗感染、对症支持治疗后转入我院进一步诊治。起病以来,精神一般,食欲欠佳,睡眠尚可,二便未见异常。患儿系第1胎第1产,胎龄40周,于2…     

Glycogen storage disease (type I) presenting in the neonatal period.

Four Asian babies presenting with type I glycogen storage disease during the early weeks of life are described. In one child the symptoms, metabolic acidosis, and hypoglycaemia were so easily controlled that the diagnosis was not entertained, leading to a late diagnosis. In another child the diagnosis was reached only by investigation of a fortuitously detected hyperlipidaemia. The 3 babies in whom early treatment was started are thriving, and in one, the liver histology was so normal that doubt was cast on the diagnosis initially.