Some untreated neonates present with severe hypoglycemia; more commonly, however, untreated infants present at age three to four months with hepatomegaly, lactic acidosis, hyperuricemia, hyperlipidemia, hypertriglyceridemia, and/or hypoglycemic seizures [ncbi.nlm.nih.gov]

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]

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]

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]

Symptoms: Presents in infancy to early childhood; hypoglycemia and severe liver disease with hepatomegaly and failure to thrive. Liver failure and cirrhosis by age 5. [quizlet.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 http://www.medscape.com/viewarticle/444388. Nissl, J. (2004 October 28). Lactic Acid. [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]

• 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]

• 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]

  Xanthoma and diarrhea may be present. Impaired platelet function can lead to a bleeding tendency with frequent epistaxis. [ncbi.nlm.nih.gov]

  […] 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]

  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]

• 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]

The proapoptotic effect of S3483 was prevented by the inhibition of nicotinamide adenine dinucleotide phosphate oxidase or by antioxidant treatment. [bloodjournal.org]

The image obtained before treatment shows a focal accumulation of activity, but none is evident after treatment (arrows). [nejm.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]

Treatment : Glucose IV. Diet. [pedclerk.bsd.uchicago.edu]

[…] overnight--can feed cornstarch before bed to keep blood glucose elevated Morning lethargy that responds to feeding Hyperglycemia after eating because glucose cannot be stored as glycogen; excess glucose gets pushed to lactate (lactic acidemia) Without treatment [quizlet.com]

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 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 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975915. Accessed on 6/5/18. Lactate Information Sheet for Clinicians. [labtestsonline.it]

Glycogen storage disease type I and G6Pase-beta deficiency: etiology and therapy. Nat Rev Endocrinol. 2010;6:676–88. [PMC free article: PMC4178929] [PubMed: 20975743] Chou JY, Jun HS, Mansfield BC. [ncbi.nlm.nih.gov]

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]

Causes/Pathophysiology : Currently idiopathic. [pedclerk.bsd.uchicago.edu]

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]

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]

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]