Biomaterial Database

B1 variant of GM2 gangliosidosis in a 12-year-old patient. 1989

H H Goebel, and G Stolte, and B Kustermann-Kuhn, and K Harzer

Division of Neuropathology, University of Mainz, Federal Republic of Germany.

A girl aged 12 y, 9 mo, suffered from a progressive neurodegenerative disorder marked by ataxia, extrapyramidal symptoms, and convulsions. A skin biopsy showed axonal pathology that emphasized axonal segments enlarged by mitochondria, dense bodies, and lysosomal residual bodies of the membranous cytoplasmic body type. This ultrastructural pathology suggested GM2 gangliosidosis which was shown to be a B1 variant by specific biochemical studies, although conventional techniques had failed to detect GM2 gangliosidosis. The B1 variant is marked by a deficient activity of beta-hexosaminidase A towards one substrate, and by an almost normal activity towards another. Both parents showed a diminished activity towards the sulfated substrate, suggesting a heterozygous state, and almost normal activity with the second substrate type.

UI	MeSH Term	Description	Entries
D007962	Leukocytes	White blood cells. These include granular leukocytes (BASOPHILS; EOSINOPHILS; and NEUTROPHILS) as well as non-granular leukocytes (LYMPHOCYTES and MONOCYTES).	Blood Cells, White,Blood Corpuscles, White,White Blood Cells,White Blood Corpuscles,Blood Cell, White,Blood Corpuscle, White,Corpuscle, White Blood,Corpuscles, White Blood,Leukocyte,White Blood Cell,White Blood Corpuscle
D008854	Microscopy, Electron	Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.	Electron Microscopy
D002478	Cells, Cultured	Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.	Cultured Cells,Cell, Cultured,Cultured Cell
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D005260	Female		Females
D005347	Fibroblasts	Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.	Fibroblast
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001619	beta-N-Acetylhexosaminidases	A hexosaminidase specific for non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. It acts on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES. Two specific mammalian isoenzymes of beta-N-acetylhexoaminidase are referred to as HEXOSAMINIDASE A and HEXOSAMINIDASE B. Deficiency of the type A isoenzyme causes TAY-SACHS DISEASE, while deficiency of both A and B isozymes causes SANDHOFF DISEASE. The enzyme has also been used as a tumor marker to distinguish between malignant and benign disease.	beta-N-Acetylhexosaminidase,N-Acetyl-beta-D-hexosaminidase,beta-Hexosaminidase,beta-N-Acetyl-D-hexosaminidase,beta-N-Acetyl-hexosaminidase,N Acetyl beta D hexosaminidase,beta Hexosaminidase,beta N Acetyl D hexosaminidase,beta N Acetyl hexosaminidase,beta N Acetylhexosaminidase,beta N Acetylhexosaminidases
D012867	Skin	The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
D013661	Tay-Sachs Disease	An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.	G(M2) Gangliosidosis, Type I,Gangliosidosis G(M2), Type I,Gangliosidosis GM2, B Variant,Hexosaminidase A Deficiency Disease,Tay-Sachs Disease, B Variant,Amaurotic Familial Idiocy,B Variant GM2 Gangliosidosis,B Variant GM2-Gangliosidosis,Deficiency Disease Hexosaminidase A,Familial Amaurotic Idiocy,GM2 Gangliosidosis, B Variant,GM2 Gangliosidosis, Type 1,GM2 Gangliosidosis, Type I,GM2-Gangliosidosis, Type I,Gangliosidosis GM2 , Type 1,Gangliosidosis GM2, Type I,HexA Deficiency,Hexosaminidase A Deficiency,Hexosaminidase alpha-Subunit Deficiency (Variant B),Sphingolipidosis, Tay-Sachs,Amaurotic Idiocy, Familial,B Variant GM2-Gangliosidoses,Deficiency, Hexosaminidase A,Deficiency, Hexosaminidase alpha-Subunit (Variant B),GM2-Gangliosidosis, B Variant,Hexosaminidase alpha Subunit Deficiency (Variant B),Sphingolipidosis, Tay Sachs,Tay Sachs Disease,Tay Sachs Disease, B Variant,Tay-Sachs Sphingolipidosis,Type I GM2-Gangliosidosis