Biomaterial Database

[Value of studying isoenzymes in hereditary lysosomal lipidoses. In particular beta-glucosidase (Gaucher's disease) and acid lipase (Wolman's disease and cholesterol ester storage disease)]. 1985

L Douste-Blazy, and A Nègre, and A Maret, and R Salvayre

UI	MeSH Term	Description	Entries
D007527	Isoenzymes	Structurally related forms of an enzyme. Each isoenzyme has the same mechanism and classification, but differs in its chemical, physical, or immunological characteristics.	Alloenzyme,Allozyme,Isoenzyme,Isozyme,Isozymes,Alloenzymes,Allozymes
D008049	Lipase	An enzyme of the hydrolase class that catalyzes the reaction of triacylglycerol and water to yield diacylglycerol and a fatty acid anion. It is produced by glands on the tongue and by the pancreas and initiates the digestion of dietary fats. (From Dorland, 27th ed) EC 3.1.1.3.	Triacylglycerol Lipase,Tributyrinase,Triglyceride Lipase,Acid Lipase,Acid Lipase A,Acid Lipase B,Acid Lipase I,Acid Lipase II,Exolipase,Monoester Lipase,Triacylglycerol Hydrolase,Triglyceridase,Triolean Hydrolase,Hydrolase, Triacylglycerol,Hydrolase, Triolean,Lipase A, Acid,Lipase B, Acid,Lipase I, Acid,Lipase II, Acid,Lipase, Acid,Lipase, Monoester,Lipase, Triglyceride
D008064	Lipidoses	Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.	Lipidosis,Lipoidosis
D005776	Gaucher Disease	An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.	Cerebroside Lipidosis Syndrome,Gaucher Disease Type 1,Gaucher Disease Type 2,Glucocerebrosidase Deficiency Disease,Glucosylceramide Beta-Glucosidase Deficiency Disease,Neuronopathic Gaucher Disease,Acid beta-Glucosidase Deficiency,Acid beta-Glucosidase Deficiency Disease,Acute Neuronopathic Gaucher Disease,Chronic Gaucher Disease,GBA Deficiency,Gaucher Disease Type 3,Gaucher Disease, Acute Neuronopathic,Gaucher Disease, Acute Neuronopathic Type,Gaucher Disease, Chronic,Gaucher Disease, Chronic Neuronopathic Type,Gaucher Disease, Infantile,Gaucher Disease, Infantile Cerebral,Gaucher Disease, Juvenile,Gaucher Disease, Juvenile and Adult, Cerebral,Gaucher Disease, Neuronopathic,Gaucher Disease, Non-Neuronopathic Form,Gaucher Disease, Noncerebral Juvenile,Gaucher Disease, Subacute Neuronopathic Form,Gaucher Disease, Subacute Neuronopathic Type,Gaucher Disease, Type 1,Gaucher Disease, Type 2,Gaucher Disease, Type 3,Gaucher Disease, Type I,Gaucher Disease, Type II,Gaucher Disease, Type III,Gaucher Splenomegaly,Gaucher Syndrome,Gaucher's Disease,Gauchers Disease,Glucocerebrosidase Deficiency,Glucocerebrosidosis,Glucosyl Cerebroside Lipidosis,Glucosylceramidase Deficiency,Glucosylceramide Beta-Glucosidase Deficiency,Glucosylceramide Lipidosis,Infantile Gaucher Disease,Kerasin Histiocytosis,Kerasin Lipoidosis,Kerasin thesaurismosis,Lipoid Histiocytosis (Kerasin Type),Non-Neuronopathic Gaucher Disease,Subacute Neuronopathic Gaucher Disease,Type 1 Gaucher Disease,Type 2 Gaucher Disease,Type 3 Gaucher Disease,Cerebroside Lipidoses, Glucosyl,Cerebroside Lipidosis Syndromes,Cerebroside Lipidosis, Glucosyl,Deficiencies, GBA,Deficiencies, Glucocerebrosidase,Deficiency Disease, Glucocerebrosidase,Deficiency Diseases, Glucocerebrosidase,Deficiency, GBA,Deficiency, Glucocerebrosidase,Disease, Chronic Gaucher,Disease, Gaucher,Disease, Gaucher's,Disease, Gauchers,Disease, Glucocerebrosidase Deficiency,Disease, Infantile Gaucher,Disease, Juvenile Gaucher,Disease, Neuronopathic Gaucher,Disease, Non-Neuronopathic Gaucher,Diseases, Gauchers,Diseases, Glucocerebrosidase Deficiency,GBA Deficiencies,Gaucher Disease, Non Neuronopathic Form,Gaucher Disease, Non-Neuronopathic,Gauchers Diseases,Glucocerebrosidase Deficiencies,Glucocerebrosidase Deficiency Diseases,Glucocerebrosidoses,Glucosyl Cerebroside Lipidoses,Glucosylceramide Lipidoses,Histiocytoses, Kerasin,Histiocytoses, Lipoid (Kerasin Type),Histiocytosis, Kerasin,Histiocytosis, Lipoid (Kerasin Type),Juvenile Gaucher Disease,Kerasin Histiocytoses,Kerasin Lipoidoses,Kerasin thesaurismoses,Lipidoses, Glucosyl Cerebroside,Lipidoses, Glucosylceramide,Lipidosis Syndrome, Cerebroside,Lipidosis Syndromes, Cerebroside,Lipidosis, Glucosyl Cerebroside,Lipidosis, Glucosylceramide,Lipoid Histiocytoses (Kerasin Type),Lipoidoses, Kerasin,Lipoidosis, Kerasin,Non Neuronopathic Gaucher Disease,Splenomegaly, Gaucher,Syndrome, Cerebroside Lipidosis,Syndrome, Gaucher,Syndromes, Cerebroside Lipidosis,thesaurismoses, Kerasin,thesaurismosis, Kerasin
D005959	Glucosidases	Enzymes that hydrolyze O-glucosyl-compounds. (Enzyme Nomenclature, 1992) EC 3.2.1.-.	Glucosidase
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001617	beta-Glucosidase	An exocellulase with specificity for a variety of beta-D-glycoside substrates. It catalyzes the hydrolysis of terminal non-reducing residues in beta-D-glucosides with release of GLUCOSE.	Cellobiases,Amygdalase,Cellobiase,Emulsion beta-D-Glucosidase,Gentiobiase,Emulsion beta D Glucosidase,beta Glucosidase,beta-D-Glucosidase, Emulsion