All articles starting with G
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Glycogen storage disease due to hepatic glycogen synthase deficiency
Glycogen storage disease type 0a (GSD 0a, hepatic glycogen synthase deficiency, GYS2, OMIM 240600): rare autosomal recessive liver glycogen synthesis defect causing fasting ketotic hypoglycemia without hepatomegaly and postprandial hyperglycemia.
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency, also called GSD IXb or PHKB-related GSD IX, is an autosomal recessive glycogenolysis defect causing hepatomegaly, hypoglycemia, and mild muscle involvement, managed with diet and uncooked cornstarch.
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Glycogen storage disease type VI, also called Hers disease, is a rare autosomal recessive liver glycogenosis caused by PYGL deficiency of hepatic glycogen phosphorylase, causing hepatomegaly, growth delay, and ketotic hypoglycemia.
Glycogen storage disease due to liver phosphorylase kinase deficiency
Liver phosphorylase kinase deficiency (GSD IXa/IXb/IXc; formerly GSD VIa, VIII) is an inherited glycogen storage disease causing hepatomegaly, fasting hypoglycemia, and elevated transaminases; genes PHKA2, PHKB, PHKG2.
Glycogen storage disease due to muscle beta-enolase deficiency
Glycogen storage disease type XIII (GSDXIII, GSD13, muscle enolase deficiency) is an extremely rare autosomal-recessive ENO3 metabolic myopathy causing exercise intolerance, myalgia, and rhabdomyolysis from muscle beta-enolase deficiency.
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Glycogen storage disease type V, McArdle disease, myophosphorylase deficiency: autosomal recessive PYGM (11q13) disorder blocking muscle glycogen breakdown, causing exercise intolerance, second wind, rhabdomyolysis, and myoglobinuria; managed with carbohydrate-rich diet and supervised aerobic exercise.
Glycogen storage disease due to muscle phosphofructokinase deficiency
Tarui disease (垂井病), glycogen storage disease type VII, muscle phosphofructokinase deficiency: autosomal recessive PFKM defect blocking glycolysis, causing exercise intolerance, cramps, hemolysis, hyperuricemia; described 1965.
Glycogen storage disease due to muscle phosphorylase kinase deficiency
Glycogen storage disease due to muscle phosphorylase kinase deficiency (GSD IXα1, formerly GSD IXd), an ultra-rare X-linked PHKA1 disorder impairing muscle glycogen breakdown, causing mild exercise intolerance, myalgia, cramps, and weakness.
Glycogen storage disease due to phosphoglycerate mutase deficiency
Glycogen storage disease type X, also called GSD10 or muscle phosphoglycerate mutase deficiency, is a rare autosomal recessive myopathy causing exercise intolerance, cramps, and rhabdomyolysis, first described in 1981.
Glycogen storage disease type II
Glycogen storage disease type II, or Pompe disease, acid maltase deficiency, GAA deficiency: autosomal recessive lysosomal glycogen buildup from acid alpha-glucosidase deficiency, causing infantile cardiomyopathy or late-onset muscle weakness, treated with enzyme replacement therapy.
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
Glycogen storage disease type XV (GSD 15, GSDXV, OMIM 613507) is an ultra-rare autosomal recessive GYG1 (glycogenin-1) disorder causing severe polyglucosan cardiomyopathy, arrhythmias, and heart failure often requiring transplantation, with skeletal muscle usually spared.
Glycogen storage diseases
Glycogen storage disease (GSD), also called glycogenosis, is an inherited metabolic disorder in which defective enzymes prevent normal glycogen breakdown, affecting mainly the liver and muscles.
Glycogen synthase
Glycogen synthase (EC 2.4.1.11, GYS1/GYS2) is the rate-limiting UDP-glucose-dependent enzyme elongating glycogen's alpha-1,4 chains, regulated by phosphorylation and glucose-6-phosphate; GYS2 deficiency causes GSD type 0a.
Glycogen Synthase Kinase-3
Glycogen synthase kinase-3 (GSK-3, GSK3), serine/threonine kinase with paralogs GSK3α and GSK3β; phosphorylates primed substrates, regulates insulin and Wnt/β-catenin signaling; drug target for diabetes, Alzheimer's, and cancer.
Glycogenesis
Glycogenesis is the biosynthesis of glycogen from glucose via UDP-glucose, using glycogenin, glycogen synthase, and branching enzyme; insulin promotes it, glucagon and cortisol oppose it, and defects cause glycogen storage disease.
Glycogenin
Glycogenin (GYG1/GYG2): self-glucosylating glucosyltransferase priming glycogen synthesis by attaching glucose to Tyr194/195 via a glucose-tyrosine bond; later found dispensable in knockout mice.
Glycogenin-1
Glycogenin-1 (GYG1, 3q24) is the self-glucosylating primer enzyme of glycogen synthesis in human muscle and heart; biallelic GYG1 mutations cause glycogen storage disease XV with polyglucosan storage, and glycogen can form without it.
Glycogenolysis
Glycogenolysis is the cytosolic breakdown of stored glycogen into glucose 1-phosphate and free glucose by glycogen phosphorylase and debranching enzyme, discovered by the Coris; it supplies 50-65% of basal hepatic glucose output and its enzyme defects cause glycogen storage diseases.
Glycol dehydration
Glycol dehydration removes water vapor from natural gas by contact with a glycol, usually triethylene glycol, which is regenerated and recirculated; it is the most common method for meeting pipeline quality.
Glycolic acid
Glycolic acid, also known as hydroxyacetic acid, is the smallest alpha hydroxy acid, made industrially from formaldehyde and carbon monoxide and used in skin care, peels, and biodegradable polymers.
Glycolipid
A glycolipid is a lipid molecule with one or more carbohydrate residues covalently attached; in animals, glycosphingolipids with sugar chains linked to ceramide predominate in cell membranes.
Glycolipid galactosyltransferases
Glycolipid galactosyltransferases are membrane-bound enzymes that transfer galactose from UDP-galactose onto lipid acceptors, chiefly ceramide-derived sphingolipids, building galactosylceramide, lactosylceramide, and gangliosides; UGT8 makes myelin's galactosylceramide.
Glycolysis
Glycolysis, or the Embden-Meyerhof-Parnas pathway, is the ten-step cytosolic breakdown of glucose into pyruvate, yielding net 2 ATP and 2 NADH; it powers anaerobic cells like erythrocytes and feeds aerobic respiration.
Glycophorin
Glycophorins (GPA, GPB, GPC, GPD, GPE) are sialoglycoproteins of the human red cell membrane carrying MNS and Gerbich blood group antigens and serving as Plasmodium falciparum receptors.
Glycophorin-C
Glycophorin C (GPC, CD236R), encoded by GYPC, is a minor erythrocyte sialoglycoprotein carrying Gerbich blood group antigens, anchoring the membrane skeleton via 4.1R, and serving as the P. falciparum EBA-140 invasion receptor.
Glycoprotein
Glycoproteins are proteins bearing covalently attached carbohydrate chains (glycans), added as N-linked (asparagine, sequon N-X-S/T) or O-linked (serine/threonine) glycosylation, the most abundant protein modification; about 50% of human proteins are glycosylated, with glycoform heterogeneity central to function and therapeutics.
Glycoprotein hormones
Glycoprotein hormones: FSH, LH, TSH, and hCG, dimeric cystine-knot glycoproteins sharing a 92-aa alpha subunit (CGA) with hormone-specific beta subunits that confer specificity; vertebrate pituitary and placental hormones acting through LRR GPCRs.
Glycopyrronium bromide
Glycopyrronium bromide (glycopyrrolate, Robinul, Seebri, Sialanar, Qbrexza) is a quaternary ammonium antimuscarinic drug approved since 1961, used for peptic ulcer, secretions, drooling, COPD, and hyperhidrosis.
Glycosaminoglycan
Glycosaminoglycans (GAGs, mucopolysaccharides): negatively charged repeating-disaccharide polysaccharides of every mammalian tissue; classes include hyaluronan, chondroitin sulfate, dermatan sulfate, heparan sulfate/heparin, and keratan sulfate; form proteoglycans and regulate signaling, anticoagulation, and matrix biology.
Glycosaminoglycan metabolism
Glycosaminoglycan metabolism: biosynthesis, sulfation, and lysosomal degradation of glycosaminoglycans (hyaluronan, heparan sulfate, chondroitin/dermatan sulfate, keratan sulfate); Reactome R-HSA-1630316, 136 genes; enzyme defects cause mucopolysaccharidoses.