| ALAS | delta-aminolevulinate synthase |
|---|---|
| ALASH | delta-aminolevulinate synthase, housekeeping type |
| bNOS | brain nitric oxide synthase |
| CBS | cervicobrachial syndrome; chronic brain syndrome; clinical behavioral science; conjugated bile salts... |
| CS | calf serum; campomelic syndrome; carcinoid syndrome; cardiogenic shock; caries-susceptible; carotid ... |
| glycogen storage disease type I | <disease> An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycaemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood. Inheritance: autosomal recessive. (12 Dec 1998) |
|---|---|
| glycogen storage disease type II | <disease> Glycogenosis due to alpha-1,4-glucosidase (acid maltase) deficiency. It affects muscle, heart, and other organs. (12 Dec 1998) |
| glycogen storage disease type III | <disease> An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups type IIIa and type IIIb being the most prevalent. Inheritance: autosomal recessive (12 Dec 1998) |
| glycogen storage disease type IV | <disease> An autosomal recessive metabolic disorder due to a deficiency in expression of branching enzyme (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal glycogen with long outer branches. Clinical features are muscle hypotonia and cirrhosis. Death from liver disease usually occurs before age 2. Inheritance: autosomal recessive (12 Dec 1998) |
| glycogen storage disease type V | <disease> Glycogenosis due to muscle phosphorylase deficiency. Characterised by painful cramps following sustained exercise. Inheritance: autosomal recessive (12 Dec 1998) |
| glycogen storage disease type VI | <disease> A hepatic glycogen storage disease in which there is an apparent deficiency of hepatic phosphorylase activity. However, studies have not been able to distinguish between phosphorylase deficiency and phosphorylase kinase deficiency in patients with hepatic glycogenosis. (12 Dec 1998) |
| glycogen storage disease type VII | <disease> An autosomal recessive muscle glycogen storage disease in which there is deficient expression of muscle phosphofructokinase activity, resulting in increased concentrations of glucose-6-phosphate and fructose-6-phosphate and low concentrations of fructose-1,6-diphosphate in muscle tissue. Glycogen storage in muscle is increased, perhaps due to activation of glycogen synthase by accumulated glucose-6-phosphate. It has been proposed that shunting of glucose-6-phosphate and fructose-6-phosphate into the pentose phosphate pathway may result in increased synthesis of purines and pyrimidines, causing hyperuricaemia and gout. Erythrocytes from patients may show decreased phosphofructokinase activity and 2,3-diphosphoglycerate deficiency. Exercise intolerance is present and severe congenital muscular dystrophy has been reported. Inheritance: autosomal recessive (12 Dec 1998) |
| glycogen storage disease type VIII | <disease> An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon. Inheritance: X-linked recessive (12 Dec 1998) |
| glycogen synthetase | <enzyme> An enzyme which makes amylose out of glucose molecules (a type of sugar) and attaches them to glycogen (a type of polysaccharide). (09 Oct 1997) |
| UDPglucose-glycogen glucose 1-phosphotransferase | <enzyme> Catalyses the transfer of glucose 1-phosphate onto c-6 of glucose residues in glycogen to form a phosphodiester Registry number: EC 2.7.8.- Synonym: ugg-glcptase (26 Jun 1999) |
| liver glycogen | Glycogen stored in the liver. (12 Dec 1998) |
| abequose synthase | <enzyme> Converts cdp-4-keto-3,6-dideoxy-d-glucose to cdp-3,6-dideoxy-d-galactose (cdp-abequose); requires NADPH, analogous to udp-glucose-4-epimerase Registry number: EC 5.1.3.- Synonym: rfbj gene product (26 Jun 1999) |
| acetoacetyl-acyl carrier protein synthase | <enzyme> E coli enzyme, that catalyses condensation of malonyl-acyl carrier protein plus acetyl-acyl carrier protein; not inhibited by cerulenin Registry number: EC 2.3.1.- Synonym: acetoacetyl-acp synthase (26 Jun 1999) |
| acetolactate synthase | <enzyme> A flavoprotein that catalyses the formation of acetolactate from 2 moles of pyruvate in the biosynthesis of valine and the formation of acetohydroxybutyrate from pyruvate and alpha-ketobutyrate in the biosynthesis of isoleucine. Chemical name: Acetolactate pyruvate-lyase (carboxylating) Registry number: EC 4.1.3.18 (12 Dec 1998) |
| acridone synthase | <enzyme> Catalyses the condensation of n-methylanthraniloyl-CoA and 3 malonyl-CoA to produce 1,3-dihydroxy-n-methylacridone Registry number: EC 2.3.1.- (26 Jun 1999) |