Biomaterial Database

SERUM ENZYMES IN FRIEDREICH'S ATAXIA. 1965

N ROBINSON, and B M PHILLIPS, and J N CUMINGS

UI	MeSH Term	Description	Entries
D007770	L-Lactate Dehydrogenase	A tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of LACTATE and PYRUVATE. In vertebrates, genes for three different subunits (LDH-A, LDH-B and LDH-C) exist.	Lactate Dehydrogenase,Dehydrogenase, L-Lactate,Dehydrogenase, Lactate,L Lactate Dehydrogenase
D009708	Nucleotidases	A class of enzymes that catalyze the conversion of a nucleotide and water to a nucleoside and orthophosphate. EC 3.1.3.-.
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D004796	Clinical Enzyme Tests	Analyses for a specific enzyme activity, or of the level of a specific enzyme that is used to assess health and disease risk, for early detection of disease or disease prediction, diagnosis, and change in disease status.	Enzyme Tests, Clinical,Clinical Enzyme Test,Enzyme Test, Clinical,Test, Clinical Enzyme,Tests, Clinical Enzyme
D004950	Esterases	Any member of the class of enzymes that catalyze the cleavage of an ester bond and result in the addition of water to the resulting molecules.	Esterase
D005621	Friedreich Ataxia	An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)	Friedreich Disease,Hereditary Spinal Sclerosis,Sclerosis, Hereditary Spinal,Friedreich Familial Ataxia,Friedreich Hereditary Ataxia,Friedreich Hereditary Spinal Ataxia,Friedreich Spinocerebellar Ataxia,Friedreich's Ataxia,Friedreich's Disease,Friedreich's Familial Ataxia,Friedreich's Hereditary Ataxia,Friedreich's Hereditary Spinal Ataxia,Hereditary Spinal Ataxia, Friedreich,Hereditary Spinal Ataxia, Friedreich's,Ataxia, Friedreich,Ataxia, Friedreich Familial,Ataxia, Friedreich Hereditary,Ataxia, Friedreich Spinocerebellar,Ataxia, Friedreich's,Ataxia, Friedreich's Familial,Ataxia, Friedreich's Hereditary,Ataxias, Friedreich,Ataxias, Friedreich's Hereditary,Disease, Friedreich,Disease, Friedreich's,Familial Ataxia, Friedreich,Familial Ataxia, Friedreich's,Friedreich Ataxias,Friedreich's Hereditary Ataxias,Friedreichs Familial Ataxia,Friedreichs Hereditary Ataxia,Hereditary Ataxia, Friedreich,Hereditary Ataxia, Friedreich's,Hereditary Ataxias, Friedreich's,Hereditary Spinal Scleroses,Scleroses, Hereditary Spinal,Spinal Scleroses, Hereditary,Spinal Sclerosis, Hereditary,Spinocerebellar Ataxia, Friedreich
D005634	Fructose-Bisphosphate Aldolase	An enzyme of the lyase class that catalyzes the cleavage of fructose 1,6-biphosphate to form dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. The enzyme also acts on (3S,4R)-ketose 1-phosphates. The yeast and bacterial enzymes are zinc proteins. (Enzyme Nomenclature, 1992) E.C. 4.1.2.13.	Aldolase,Fructosediphosphate Aldolase,Aldolase A,Aldolase B,Aldolase C,Fructose 1,6-Bisphosphate Aldolase,Fructose 1,6-Bisphosphate Aldolase, Class II,Fructose 1-Phosphate Aldolase,Fructose Biphosphate Aldolase,Fructosemonophosphate Aldolase,1,6-Bisphosphate Aldolase, Fructose,Aldolase, Fructose 1,6-Bisphosphate,Aldolase, Fructose 1-Phosphate,Aldolase, Fructose Biphosphate,Aldolase, Fructose-Bisphosphate,Aldolase, Fructosediphosphate,Aldolase, Fructosemonophosphate,Fructose 1 Phosphate Aldolase,Fructose 1,6 Bisphosphate Aldolase,Fructose Bisphosphate Aldolase
D005956	Glucose-6-Phosphate Isomerase	An aldose-ketose isomerase that catalyzes the reversible interconversion of glucose 6-phosphate and fructose 6-phosphate. In prokaryotic and eukaryotic organisms it plays an essential role in glycolytic and gluconeogenic pathways. In mammalian systems the enzyme is found in the cytoplasm and as a secreted protein. This secreted form of glucose-6-phosphate isomerase has been referred to as autocrine motility factor or neuroleukin, and acts as a cytokine which binds to the AUTOCRINE MOTILITY FACTOR RECEPTOR. Deficiency of the enzyme in humans is an autosomal recessive trait, which results in CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA.	Glucosephosphate Isomerase,Phosphoglucose Isomerase,Phosphohexose Isomerase,Autocrine Motility Factor,Isomerase, Glucose 6 Phosphate,Neuroleukin,Tumor Autocrine Motility Factor,Tumor-Cell Autocrine Motility Factor,Factor, Autocrine Motility,Glucose 6 Phosphate Isomerase,Isomerase, Glucose-6-Phosphate,Isomerase, Glucosephosphate,Isomerase, Phosphoglucose,Isomerase, Phosphohexose,Motility Factor, Autocrine,Tumor Cell Autocrine Motility Factor
D005966	Glucuronidase		Endo-beta-D-Glucuronidase,Endoglucuronidase,Exo-beta-D-Glucuronidase,beta-Glucuronidase,Endo beta D Glucuronidase,Exo beta D Glucuronidase,beta Glucuronidase
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man