Biomaterial Database

Chronic GM1 gangliosidosis presenting as dystonia: II. Biochemical studies. 1981

T Kobayashi, and K Suzuki

A patient with chronic GM1 gangliosidosis was studied enzymatically and biochemically. Leukocyte acid beta-galactosidase activity was severely deficient. In brain and liver, the 4-methylumbelliferyl beta-galactosidase with acidic pH optimum and lactosylceramidase II were deficient while other hydrolases were present in normal amounts, including sialidase determined with N-acetylneuramin-lactose and fetuin as substrates. Neutral beta-galactosidase in liver was increased up to fourfold over the control. Corresponding to the pathological findings, GM1 ganglioside sialic acid was increased in the basal ganglia to 57% of the total (normal, 12 to 16%), accounting for the rise in total ganglioside to 180% of normal in this origin. Only slight to moderate elevations in the proportion of GM1 ganglioside were noted in the cerebral cortex and white matter, without major increase in total ganglioside. Elevated asialo GM1 ganglioside was also confined to the basal ganglia. There was no increase in hepatic glycoproteins or in keratan sulfate-like materials. This is the only known patient with chronic GM1 gangliosidosis in whom abnormal accumulation of GM1 ganglioside has been demonstrated in affected tissue and sialidase deficiency has been excluded as the primary genetic defect.

UI	MeSH Term	Description	Entries
D007787	Lactose Intolerance	The condition resulting from the absence or deficiency of LACTASE in the MUCOSA cells of the GASTROINTESTINAL TRACT, and the inability to break down LACTOSE in milk for ABSORPTION. Bacterial fermentation of the unabsorbed lactose leads to symptoms that range from a mild indigestion (DYSPEPSIA) to severe DIARRHEA. Lactose intolerance may be an inborn error or acquired.	Lactose Malabsorption,Alactasia,Dairy Product Intolerance,Hypolactasia,Milk Sugar Intolerance,Intolerance, Lactose,Malabsorption, Lactose
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
D008099	Liver	A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.	Livers
D008247	Lysosomes	A class of morphologically heterogeneous cytoplasmic particles in animal and plant tissues characterized by their content of hydrolytic enzymes and the structure-linked latency of these enzymes. The intracellular functions of lysosomes depend on their lytic potential. The single unit membrane of the lysosome acts as a barrier between the enzymes enclosed in the lysosome and the external substrate. The activity of the enzymes contained in lysosomes is limited or nil unless the vesicle in which they are enclosed is ruptured or undergoes MEMBRANE FUSION. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed).	Autolysosome,Autolysosomes,Lysosome
D008297	Male		Males
D001923	Brain Chemistry	Changes in the amounts of various chemicals (neurotransmitters, receptors, enzymes, and other metabolites) specific to the area of the central nervous system contained within the head. These are monitored over time, during sensory stimulation, or under different disease states.	Chemistry, Brain,Brain Chemistries,Chemistries, Brain
D002908	Chronic Disease	Diseases which have one or more of the following characteristics: they are permanent, leave residual disability, are caused by nonreversible pathological alteration, require special training of the patient for rehabilitation, or may be expected to require a long period of supervision, observation, or care (Dictionary of Health Services Management, 2d ed). For epidemiological studies chronic disease often includes HEART DISEASES; STROKE; CANCER; and diabetes (DIABETES MELLITUS, TYPE 2).	Chronic Condition,Chronic Illness,Chronically Ill,Chronic Conditions,Chronic Diseases,Chronic Illnesses,Condition, Chronic,Disease, Chronic,Illness, Chronic
D005677	G(M1) Ganglioside	A specific monosialoganglioside that accumulates abnormally within the nervous system due to a deficiency of GM1-b-galactosidase, resulting in GM1 gangliosidosis.	GM1 Ganglioside,Monosialosyl Tetraglycosyl Ceramide,GM1a Monosialoganglioside,Ceramide, Monosialosyl Tetraglycosyl,Ganglioside, GM1,Monosialoganglioside, GM1a,Tetraglycosyl Ceramide, Monosialosyl
D005732	Gangliosides	A subclass of ACIDIC GLYCOSPHINGOLIPIDS. They contain one or more sialic acid (N-ACETYLNEURAMINIC ACID) residues. Using the Svennerholm system of abbrevations, gangliosides are designated G for ganglioside, plus subscript M, D, or T for mono-, di-, or trisialo, respectively, the subscript letter being followed by a subscript arabic numeral to indicated sequence of migration in thin-layer chromatograms. (From Oxford Dictionary of Biochemistry and Molecular Biology, 1997)	Ganglioside,Sialoglycosphingolipids
D005733	Gangliosidoses	A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.	Ganglioside Storage Diseases,Ganglioside Storage Disorders,Gangliosidosis,Ganglioside Storage Disease,Ganglioside Storage Disorder,Storage Disease, Ganglioside,Storage Diseases, Ganglioside,Storage Disorder, Ganglioside,Storage Disorders, Ganglioside