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]

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]

Hence if the patients have not presented with clinical decompensation by then, they normally would present in the second 6 months of infancy. [tp.amegroups.com]

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]

• Anemia

  Type C Fanconi Anemia Fanconi Pancytopenia Type 3 Fancc-Related Fanconi Anemia FANCC Complementation Group C Fanconi Anemia Fanconi Hypoplastic Anemia Fanconi Pancytopenia FA Fanconi Panmyelopathy FMR1 Fragile X FRAXA Syndrome Fra(X) Syndrome FXS Marker [nxgenmdx.com]

  […] due to diphosphoglycerate mutase deficiency Hemolytic anemia due to glucophosphate isomerase deficiency Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Hemolytic anemia due to red cell pyruvate kinase deficiency Hepatoencephalopathy due [se-atlas.de]

  Erythrocyte disorders: Anemias due to increased destruction of erythrocytes with enzyme deficiencies Glucose-6-phosphate dehydrogenase deficiency. [labtestsonline.it]

  Fanconi Anemia Autosomal Recessive congenital pancytopenia. Normocytic anemia with neutropenia. Short stature, microcephaly, hypogenitalism, strabismus, anomalies of the thumbs, radii, and kidneys, mental retardation, and microphthalmia. [kumc.edu]

  When some prisoners were given the drug primaquine, some developed hemolytic anemia but others did not. [ipfs.io]

• Short Stature

  Affected children typically have doll-like faces with fat cheeks, relatively thin extremities, short stature, and protuberant abdomen. Xanthoma and diarrhea may be present. [ncbi.nlm.nih.gov]

  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]

  Prader-Willi Syndrome Chromosomal Deletion of part of short arm of chromosome 15, paternal copy. An example of genomic imprinting. Mental retardation, short stature, hypotonia, obesity and huge appetite after infancy. [kumc.edu]

  There may be associated short stature. Patients often grow out of their hypoglycaemic tendency, but exaggerated ketosis remains ( 14 ). [tp.amegroups.com]

  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]

• 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]

• Swelling

  The buildup of glycogen in the liver and kidneys causes them to swell, although these organs are still able to perform the majority of their functions. Benign (non-cancerous) tumors in the liver are often seen around the time of puberty. [counsyl.com]

  And A Discrepantly Mild Course Leukoencephalopathy With Swelling And Cysts LVM MLC Vacuolating Leukoencephalopathy Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts Van Der Knapp Disease Vl MPI Congenital Disorder Of Glycosylation [nxgenmdx.com]

  […] equation: \[ pV = nRT \: \Longleftrightarrow \: p = \frac{n}{V}RT \nonumber\] Glycogen amounts to 10% of the liver’s wet weight, equivalent to 600 mM glucose When free, 600 mM glucose would triple the osmotic activity of the cytosol—liver cells would swell [watcut.uwaterloo.ca]

  […] phenotypes Clinical features Onset age Usual: < 15 years; Often early childhood (< 10 years) May be > 50 years Male predominance Exercise intolerance & Fatigue (99%) Especially brief & intense: Moderate exercise usually well tolerated Cramping & Muscle swelling [neuromuscular.wustl.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]

• Vomiting

  Infants become lethargic, fail to thrive, hypoglycemic due to non-conversion of galactose to glucose, may vomit and may suffer from jaundice. b. [biologydiscussion.com]

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

  Manifestations of severe metabolic acidosis include vomiting and hyperpnea, which can exacerbate hypoglycemia by reducing oral intake. [en.wikipedia.org]

  In circumstances where fasting occurs, such as inter-current illness such as vomiting or pre-operatively, intravenous glucose based fluids need to be administered. [tp.amegroups.com]

  […] glycolysis Rate limiting step in glycolysis Clinical features: Some features similar to McArdle's Onset: 2nd to 4th decade Exercise intolerance Muscle cramps & Myoglobinuria after vigorous exercise Cramps relieved by rest Pain may be associated with nausea & vomiting [neuromuscular.wustl.edu]

• Diarrhea

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

  Hepatomegaly, jaundice, cataracts, failure to thrive, sepsis ( E. coli ), diarrhea, vomiting, pseudotumor cerebri, mental retardation and renal Fanconi syndrome. Usually presents in first few days of life, or after milk exposure. [pedclerk.bsd.uchicago.edu]

  Pellagra -like syndrome (diarrhea, dementia, dermatitis), light-sensitive skin rash, temporary cerebellar ataxia. Kartagener's Syndrome Autosomal Recessive. [kumc.edu]

  […] translocase deficiency Carnosinemia Cerebral organic aciduria Cerebrotendinous xanthomatosis Childhood encephalopathy due to thiamine pyrophosphokinase deficiency Cholesterol-ester transfer protein deficiency Cholesteryl ester storage disease Chronic diarrhea [se-atlas.de]

• Nausea

  (ii) Hypoglycemia accompanied by nausea, vomiting, and pro-fused sweating. This may be due to excessive insulin secretion. (iii) Albuminuria, aminoaciduria. Mellituria : This is a condition in which sugars are excreted in urine. [biologydiscussion.com]

  Often an infant who has received sweet food containing sucrose or fructose for the first time, and has nausea, bloating, and vomiting; lactic acidosis. Long term, hepatomegaly with liver damage and kidney damage. [pedclerk.bsd.uchicago.edu]

  However, if symptomatic they too may awaken in the morning with similar symptoms and nausea. These symptoms may be related to either hypoglycaemia or ketosis. [tp.amegroups.com]

  […] glycolysis Rate limiting step in glycolysis Clinical features: Some features similar to McArdle's Onset: 2nd to 4th decade Exercise intolerance Muscle cramps & Myoglobinuria after vigorous exercise Cramps relieved by rest Pain may be associated with nausea [neuromuscular.wustl.edu]

• Abdominal Pain

  Pretreatment Clinical Features Patient 1 Before the administration of GM-CSF, Patient 1 had crampy abdominal pain every night that was severe enough to awaken him and require pain medication. [nejm.org]

  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]

• Hepatomegaly

  Diet and other therapies are only partially successful at limiting hepatomegaly, hypoglycemia. [quizlet.com]

  A glycogen build up is found in liver causing hepatomegaly. [edusanjalbiochemist.blogspot.com]

  Number) Defective Proteins or Enzymes 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 [msdmanuals.com]

  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]

  Older patients: hypoglycemia at night (fasting state), hepatomegaly, seizures. [pedclerk.bsd.uchicago.edu]

• Aphthous Stomatitis

  In addition to the classical phenotype of glycogenoses, GSD1b is associated with neutropenia and/or neutrophil dysfunction that cause increased susceptibility to recurrent bacterial infections, aphthous stomatitis, and inflammatory bowel disease (IBD) [ijponline.biomedcentral.com]

• Hypertension

  Pulmonary hypertension may be seen in non-ketotic hyperglycaemia [ 4 ], and was described in glycogenoses type I [ 5, 6 ], inborn errors of intracellular cobalamin metabolism [ 7 ], HUPRA (hyperuricaemia, pulmonary hypertension, renal failure and alkalosis [err.ersjournals.com]

  […] 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 Hypertension [en.wikibooks.org]

  […] kidney and systemic diseases with renal involvement – and explains their genetic causes *World-renowned editors and authors offer expert frameworks for understanding the links between genes and complex clinical disorders (i.e., lupus, diabetes, HIV, and hypertension [books.google.de]

  Long-term complications of untreated GSDI include growth retardation resulting in short stature, osteoporosis, delayed puberty, gout, renal disease, pulmonary hypertension, hepatic adenomas with potential for malignant transformation, polycystic ovaries [ncbi.nlm.nih.gov]

  The type IV defect almost invariably results in death before puberty in consequence of cirrhosis and portal hypertension. Symptoms of the other types generally disappear before or by puberty. [britannica.com]

• Cyanosis

  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]

• Osteoporosis

  Long-term complications of untreated GSDI include growth retardation resulting in short stature, osteoporosis, delayed puberty, gout, renal disease, pulmonary hypertension, hepatic adenomas with potential for malignant transformation, polycystic ovaries [ncbi.nlm.nih.gov]

  Long-term complications can include kidney damage, brittle bones (osteoporosis), benign cysts on the ovaries (in women), and benign tumors of the liver (adenomas). [counsyl.com]

  […] periodontal disease recurrent mucosal ulceration hypoglycemia ( 11321392 ) cerebral abscesses ( 1467626 ) peripheral and central giant cell granuloma ( 19590614 ) Reduced creatinine clearance Focal segmental glomerulosclerosis Renal stones Renal enlargement osteoporosis [humpath.com]

  Osteoporosis — A disease in which the bones become weak and brittle. [medical-dictionary.thefreedictionary.com]

  Most clinical manifestations of lysinuric protein intolerance ( i.e. failure to thrive, gastrointestinal disease, bone-marrow abnormalities, osteoporosis and renal disease) have been well characterised and are related to the metabolic derangement [ 69 [err.ersjournals.com]

• Osteopenia

  Testing: serum glucose (hypoglycemic during fasting period), urine ketones, fasting serum lactate, liver enzymes (mild hepatocellular damage), amino acids (hypoalaninemia due to gluconeogenesis), x-ray (for signs of osteopenia), fasting glucagon challenge [quizlet.com]

  Motor developmental delay can occur in GSD IIIa and both forms can be associated with osteopenia. [tp.amegroups.com]

  Anterior pelvic tilt; Forward trunk lean Relatively spared muscles Hip flexors Spinal extensors Skeletal Contractures Hip flexors Iliotibial bands Plantar flexors: Foot Posterior tibial Plantar fascia Scoliosis: Less than untreated patients Bone issues: Osteopenia [neuromuscular.wustl.edu]

• Fracture

  Multiple fractures after birth, blue sclerae, thin skin, progressive deafness in some types (due to abnormal middle ear ossicles). Type-I is most common; Type-II is most severe; Type-IV is mildest form. [kumc.edu]

  Finally, chronic hypoxaemia secondary to ILD, associated liver disease, long bone infection and fracture with pulmonary emboli may result in pulmonary hypertension [ 44 ].Whatever the pathogenesis, digital clubbing is described as a common feature of [err.ersjournals.com]

• Muscle Hypotonia

  […] cramps, rhabdomyolysis, hemolysis Treatment: Nonspecific, avoidance of excessive exercise GSD VIII/IX (306000, 172490, 604549, 311870) — Onset: Heterogeneous Clinical features: Heterogeneous; hepatomegaly, growth retardation, muscle hypotonia, hypercholesterolemia [msdmanuals.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]

• Epistaxis

  Impaired platelet function can lead to a bleeding tendency with frequent epistaxis. [ncbi.nlm.nih.gov]

  Clinical features: Before 1 yr, severe hypoglycemia, lactic acidosis, and hepatomegaly; later, hepatic adenomas, renomegaly with progressive renal insufficiency and hypertension, short stature, hypertriglyceridemia, hyperuricemia, platelet dysfunction with epistaxis [msdmanuals.com]

  Other signs/symptoms: high triglycerides/cholesterol, lactate, uric acid; LFTs usually normal or slightly elevated; bleeding such as recurrent epistaxis; neutropenia with GSD Ib. Diagnosis by liver biopsy or genetics. [pedclerk.bsd.uchicago.edu]

  It may cause clinically significant bleeding, especially epistaxis. Neurodevelopmental effects [ edit ] Developmental delay is a potential secondary effect of chronic or recurrent hypoglycemia, but is at least theoretically preventable. [en.wikipedia.org]

• Round Face

  Low birth-weight, round-face, hypertelorism (wide-set eyes), low-set ears, epicanthal folds. Down Syndrome (Trisomy 21) Chromosomal Trisomy 21, with risk increasing with maternal age. [kumc.edu]

• Seizure

  If their blood sugar reaches a critically low level, some may experience seizures. [counsyl.com]

  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]

  Most patients experience muscle symptoms, such as weakness and cramps, although certain GSDs manifest as specific syndromes, such as hypoglycemic seizures or cardiomegaly. The image below illustrates the metabolic pathways for carbohydrates. [emedicine.medscape.com]

  Older patients: hypoglycemia at night (fasting state), hepatomegaly, seizures. [pedclerk.bsd.uchicago.edu]

  […] syndrome Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple mitochondrial DNA deletion syndrome Multiple mitochondrial dysfunctions syndrome Multiple mitochondrial dysfunctions syndrome type 3 Multiple osteochondromas Multiple [se-atlas.de]

• Tremor

  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]

  Reduced Triosephosphate isomerase activity in many tissues Clinical: Most severe clinical disorder fo fo glycolysis Onset: < 2 years Hemolytic anemia: Chronic; Non-spherocytic; Crises Recurrent infections CNS Mental retardation Dystonia Cerebellar Tremor [neuromuscular.wustl.edu]

• Convulsions

  Gitzelmann et al. (1996) stated that the disorder should be sought in children who, before the first meal of the day, present with drowsiness, lack of attention, pallor, uncoordinated eye movements, disorientation, or convulsions, and who have hypoglycemia [sandwalk.blogspot.com]

• 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]

• Kidney Failure

  The red cells rarely disintegrate in the circulation, so hemoglobin is rarely excreted directly by the kidney, but this can occur in severe cases, causing acute renal failure. [ipfs.io]

• 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]

• Enlargement of the Liver

  The symptoms of disease in the liver group are similar, ranging from symptomatic hypoglycemia and ketoacidosis to largely asymptomatic enlargement of the liver (hepatomegaly). [britannica.com]

  Maternal glucose transferred across the placenta prevents hypoglycemia in a fetus with GSD I, but the liver is enlarged with glycogen at birth. [en.wikipedia.org]

• Hypoglycemia

  Differential for Hypoglycemia A good starting point for evaluating hypoglycemia is to divide patients into ketotic or non-ketotic. [pedclerk.bsd.uchicago.edu]

  Uncooked cornstarch at night to avoid nighttime hypoglycemia. [quizlet.com]

  Hypoglycemia often occurs within six hours. [en.wikipedia.org]

  Liver function is normal and patients do not have hypoglycemia. [edusanjalbiochemist.blogspot.com]

  The hallmark features of this disease are hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia. The severity of the hypoglycemia and lactic acidosis can be such that in the past affected individuals died in infancy. [themedicalbiochemistrypage.org]

• Fasting Hypoglycemia

  Fasting hypoglycemia occurs with ketosis and appears early in life (infancy to childhood). [quizlet.com]

  PCK1 (20q13.31)* Onset: Childhood Clinical features: Failure to thrive, hypotonia, hepatomegaly, lactic acidosis, hypoglycemia Treatment: Avoidance of fasting, uncooked cornstarch *Gene has been identified, and molecular basis has been elucidated. [msdmanuals.com]

  The next step is usually a carefully monitored fast. Hypoglycemia often occurs within six hours. [en.wikipedia.org]

  The clinical presentation of GSD1b is characterized by hepatomegaly, failure to thrive, fasting hypoglycemia, and dyslipidemia. [ijponline.biomedcentral.com]

  Interrelationships of metabolic pathway disruption in von Gierke disease : In the absence of glucose-6-phosphatase activity free glucose cannot be release from the liver contibuting to severe fasting hypoglycemia. [themedicalbiochemistrypage.org]

• Hepatocellular Carcinoma

  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]

  Symptoms due to complications of liver cirrhosis: portal hypertension, esophageal varices, encephalopathy, splenomegaly, ascites, reduced renal function Rarely, associated with hepatocellular carcinoma. [quizlet.com]

  Hepatocellular carcinoma with glycogen storage disease type 1a. Pediatr Int. 2020;62:744–5. [PubMed: 32329540] Okechuku GO, Shoemaker LR, Dambska M, Brown LM, Mathew J, Weinstein DA. [ncbi.nlm.nih.gov]

  Glycogen storage disease type III-hepatocellular carcinoma a long-term complication? J Hepatol 2007;46:492-8. [ PubMed ] Roscher A, Patel J, Hewson S, et al. [tp.amegroups.com]

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]

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 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]

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]

(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]