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Glycogen Storage Disease due to Glucose-6-Phosphat Transport Defect

Von Gierke Disease


Presentation

  • Special emphasis is placed on acutely presenting disorders and emergency situations. The rationale of the approaches presented in this book are based on extensive, collective clinical experience.[books.google.de]
  • It also has a unique clinical presentation depending on age at onset, ranging from fatal hypotonia and cardiomegaly in the neonate to muscular dystrophy in adults.[emedicine.medscape.com]
  • A glucose-6-phosphate uptake was also present in microsomes from undifferentiated HL-60 and Jurkat cells, but it was insensitive to S3483.[bloodjournal.org]
  • Patients with glycogen storage disease type 1B present the clinical features of glycogen storage disease type 1A.[humpath.com]
Fatigue
  • […] dehydrogenase : 11p15 Differential diagnosis of exercise intolerance CPT II deficiency Most common cause of recurrent myoglobinuria Myoglobinuria occurs after moderate exercise or prolonged fasting Mitochondrial disorders Complex III, or I or IV Premature fatigue[neuromuscular.wustl.edu]
  • He explains that he refused to go back to practice because he was humiliated by the other players due to his quick and excessive fatigue after a set of drills accompanined by pain in his muscles.[medbullets.com]
  • Recent Advances in the Understanding of Skeletal Muscle Fatigue. Medscape, from Current Opinion in Rheumatology [On-line information]. Available online at . Nissl, J. (2004 October 28). Lactic Acid. WebMD Health Guide A-Z [On-line information].[labtestsonline.it]
  • The 2 index cases presented with morning fatigue, had ketotic hypoglycemia when fasting which rapidly disappeared after eating, and hepatic glycogen deficiency with absent or very low hepatic glycogen synthase activity.[sandwalk.blogspot.com]
  • Definition of hypoglycemia Symptoms Gen: Irritability, anxiety, hunger, fatigue, Neuro: HA, blurred vision, tremors, weakness, confusion, ataxia, stupor, seizures, coma GI: abdominal pain, Heme/CV: pallor, cyanosis, diaphoresis, tachycardia, Resp: tachypnea[pedclerk.bsd.uchicago.edu]
Inflammation
  • They are also more likely to develop chronic inflammation of the pancreas, chronic inflammatory bowel disease, and Crohn's disease.[counsyl.com]
  • The responses of our patients to the administration of GM-CSF and G-CSF suggest that these drugs may have decreased bowel inflammation and oral mucosal lesions, at least in the short term.[nejm.org]
  • At the age of 7 years, given the presence of stomatitis aphthosa and perianal ulcers, an ileocolonoscopy was performed showing signs of non-specific chronic inflammation.[ijponline.biomedcentral.com]
Weight Gain
  • His weight increased by 3.2 kg, and he began limiting his food intake to avoid excessive weight gain. His stools changed from loose to formed during treatment.[nejm.org]
Anorexia
  • Patient 2 Before the administration of GM-CSF, Patient 2 had episodes, three to four times per year, of crampy abdominal pain and anorexia that lasted four to six weeks and milder abdominal discomfort at other times.[nejm.org]
Easy Bruising
  • Blood platelets are also affected and frequent nosebleeds and easy bruising are common. Primary symptoms improve with age, but after age 20-30, liver tumors, liver cancer, chronic renal disease, and gout may appear.[medical-dictionary.thefreedictionary.com]
Blood in Stool
  • Blood-chemistry values, erythrocyte sedimentation rates (obtained by the Westergren method), tests for occult blood in stool, and assays for alpha1-antitrypsin in stool (an index of serum protein loss into stool) 20 were obtained before and during the[nejm.org]
Periodontitis
  • 9007171, 11321392, 12373579 ) inflammatory bowel disease-like colitis ( 11383585 ) immune dysfunction impaired phagocytic functions. intestinal mucosal ulcerations oral complications ( 2304744, 7776266, 7617501, 9106875 ) oral ulcers rapidly progressive periodontal[humpath.com]
Recurrent Oral Ulceration
  • In addition, they are susceptible to recurrent bacterial infection and have recurrent oral ulcers and occasionally Crohn’s-like disease.[humpath.com]
Oral Ulcers
  • In addition, they are susceptible to recurrent bacterial infection and have recurrent oral ulcers and occasionally Crohn’s-like disease.[humpath.com]
Lipemia Retinalis
  • Synopsis hepatomegaly failure to thrive renal dysfunction recurrent infections Short stature Delayed puberty ’Doll-like’ facies Lipemia retinalis Hypertension Protuberant abdomen Hepatomegaly Liver adenomas Hepatocellular carcinoma Pancreatitis chronic[humpath.com]
Xanthoma
  • Short stature & growth delay Abdomen protrusion Build up of glycogen and fat in the liver Enlarged liver and malignant/benign growths in the liver Yellow plaques on skin (xanthomas) Spider-like arteries, gout in the ear or kidney Bleeding disorders Hypoglycemia[en.wikibooks.org]
  • […] ulceration hypoglycemia ( 11321392 ) cerebral abscesses ( 1467626 ) peripheral and central giant cell granuloma ( 19590614 ) Reduced creatinine clearance Focal segmental glomerulosclerosis Renal stones Renal enlargement osteoporosis gouty arthritis xanthoma[humpath.com]
  • Xanthoma and diarrhea may be present. Impaired platelet function can lead to a bleeding tendency with frequent epistaxis.[ncbi.nlm.nih.gov]
  • Homozygous: accelerated atherosclerosis, MI by age 35, xanthomas. Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome) Autosomal Dominant Disorders Autosomal Dominant. Telangiectasias of skin and mucous membranes.[kumc.edu]
  • […] disease Neuronal ceroid lipofuscinosis ( Batten disease ) - Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease ( Wolman disease ) Other lipid Lipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma[wikidoc.org]
Hirsutism
  • Affected female patients will have polycystic ovaries but none of the other symptoms of polycystic ovarian syndrome (PCOS) such as hirsutism. The common treatment for type 1 glycogen storage disease is to maintain normal blood glucose concentration.[themedicalbiochemistrypage.org]
Renomegaly
  • Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. The two subtypes (GSDIa and GSDIb) are clinically indistinguishable.[ncbi.nlm.nih.gov]
  • Defective Gene or Genes (Chromosomal Location) Comments GSD I (Von Gierke disease) Most common type of GSD I: Ia ( 80%) Onset: Before 1 yr Clinical features: Before 1 yr, severe hypoglycemia, lactic acidosis, and hepatomegaly; later, hepatic adenomas, renomegaly[msdmanuals.com]
Renal Stone
  • stones Renal enlargement osteoporosis gouty arthritis xanthoma severe neutropenia ( 8447561 ) impaired neutrophil migration abnormal leukocyte function T1 transport protein (Glucose-6-phosphate translocase) defect Hyperlipidemia Hyperuricemia Lactic[humpath.com]
  • If persistent, this can lead to gout and renal stone formation. Flux through this pathway is greater when metabolic control is poor and uric acid clearance is impaired as renal function deteriorates.[tp.amegroups.com]
Renal Insufficiency
  • insufficiency and hypertension, short stature, hypertriglyceridemia, hyperuricemia, platelet dysfunction with epistaxis, and anemia In type Ib, less severe but including neutropenia, neutrophil dysfunction with recurrent infections, and inflammatory[msdmanuals.com]

Workup

Colonic Ulcer
  • Colon ulceration and perforation in cyclic neutropenia . J Pediatr Surg 1973 ;8: 379 –82. 20. Thomas DW, Sinatra FR, Merritt RJ. . Fecal α1-antitrypsin excretion in young people with Crohn's disease .[nejm.org]

Treatment

  • The image obtained before treatment shows a focal accumulation of activity, but none is evident after treatment (arrows).[nejm.org]
  • The proapoptotic effect of S3483 was prevented by the inhibition of nicotinamide adenine dinucleotide phosphate oxidase or by antioxidant treatment.[bloodjournal.org]
  • […] c biochemical diagnostics, laboratory methods, and treatment.[books.google.de]
  • Unfortunately, no specific treatment or cure exists, although diet therapy may be highly effective at reducing clinical manifestations. [1] In some cases, liver transplantation may abolish biochemical abnormalities. Active research continues.[emedicine.medscape.com]
  • Diagnosis [ edit ] Based on variety of lab results G6PD Increase in lipids in blood (lipidemia) High levels of uric acid in blood (hyperurcemia) High levels of ketones in blood (ketonemia) Metabolic acidosis (increase of acids or decrease in water fluid) Treatment[en.wikibooks.org]

Prognosis

  • What is the prognosis for a person with Glycogen Storage Disease Type Ib? With careful monitoring of diet and blood sugar levels, people with GSD type Ib can improve their metabolic abnormalities and live into adulthood.[counsyl.com]
  • In the past the prognosis for type 1 glycogen storage disease patients was poor.[themedicalbiochemistrypage.org]
  • Prognosis and treatment of glycogen storage diseases vary by type, but treatment typically includes dietary supplementation with cornstarch to provide a sustained source of glucose for the hepatic forms of GSD and exercise avoidance for the muscle forms[msdmanuals.com]
  • Despite this, the age at onset of respiratory symptoms seems critical for the definition of lung disease severity, and patients with symptoms and signs in the first decade of life generally have worse pulmonary prognosis [ 72 ].[err.ersjournals.com]
  • Prognosis People with well-managed, treatable types of GSD can lead long, relatively normal lives. This goal is accomplished with the milder types of GSD, such as Types VI, IX, and X.[medical-dictionary.thefreedictionary.com]

Etiology

  • Etiology GSD I is caused by mutations in the G6PC gene resulting in lack of normal activity of the hepatic enzyme complex consisting of glucose-6-phosphate transporter (G6PT) and glucose-6-phosphatase-alpha, which catalyzes the final step in the production[online.epocrates.com]
  • Etiology The etiology of GSD is best understood by following the metabolic events leading to the synthesis (glycogenesis) and degradation of glycogen (glycogenolysis).[knowledge.statpearls.com]
  • (April 4, 2013) Etiology and therapeutic approach to elevated lactate. Mayo Clinic Proceedings. Available online at . Accessed on 6/5/18. Lactate Information Sheet for Clinicians. Clinical Excellence Commission. Available online at .[labtestsonline.it]

Epidemiology

  • Lamp-2 : Xq24 Phosphorylase (McArdle's), severe phenotype: 11q13 Triosephosphate isomerase : 12p13 Acid Maltase Deficiency (Glycogen storage disease 2 (GSD2); Pompe disease) Acid α-1,4-glucosidase (GAA) ; Chromosome 17q25.3; Recessive Nosology: LGMD 2V Epidemiology[neuromuscular.wustl.edu]
  • Relevant External Links for G6PC Genetic Association Database (GAD) G6PC Human Genome Epidemiology (HuGE) Navigator G6PC Atlas of Genetics and Cytogenetics in Oncology and Haematology: G6PC No data available for Genatlas for G6PC Gene Mutation frequencies[genecards.org]
  • Diagnosis The diagnosis is generally suspected when patients from certain ethnic groups (see epidemiology) develop anemia, jaundice and symptoms of hemolysis after challenges from any of the above causes, especially when there is a positive family history[ipfs.io]
  • Epidemiology The overall incidence of GSD (all forms) in Europe, Canada, and the United States is estimated to be between 1 in 20,000 and 1 in 40,000.[knowledge.statpearls.com]
  • Epidemiology [ edit ] In the United States, GSD I has an incidence of approximately 1 in 50,000 [1] to 100,000 [2] births. None of the glycogenoses are currently detected by standard or extended newborn screening.[en.wikipedia.org]
Sex distribution
Age distribution

Pathophysiology

  • More than 2,000 disease genes have been identified in the last 20 years, providing important new insight into the pathophysiology of diseases in every field of medicine.[books.google.de]
  • Causes/Pathophysiology : Currently idiopathic.[pedclerk.bsd.uchicago.edu]
  • Approximately 80 mutations in SLC37A4 (G6PT1) have been identified. [2] Pathophysiology GSD I results from lack of activity of the hepatic enzyme complex consisting of glucose-6-phosphate transporter (G6PT) and glucose-6-phosphatase-alpha, which is essential[online.epocrates.com]
  • Pathophysiology Figure 1 summarizes the pathophysiology for each GSD, along with organ(s) affected, as well as the potential signs. In general, GSDs primarily affect the liver, skeletal muscle, or both.[knowledge.statpearls.com]
  • Although these manifestations are highly debilitating and impact significantly on patients’ quality of life, their pathophysiology is still poorly characterized.[ijponline.biomedcentral.com]

Prevention

  • The proapoptotic effect of S3483 was prevented by the inhibition of nicotinamide adenine dinucleotide phosphate oxidase or by antioxidant treatment.[bloodjournal.org]
  • Once the diagnosis has been made, the principal goal of treatment is to maintain an adequate glucose level and prevent hypoglycemia.[en.wikipedia.org]
  • Errors in any of the three prevent glycogen from being completely mobilized to glucose.[quizlet.com]
  • In skeletal muscle, e.g., GSD 5, this can prevent proper muscle functioning, exercise intolerance and rhabdomyolysis.[knowledge.statpearls.com]
  • Thus, preventing hypoglycemia is very important to avoid developmental deficits.[pedclerk.bsd.uchicago.edu]

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