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Sandhoff disease

Index Sandhoff disease

Sandhoff disease, also known as Sandhoff–Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B. These catabolic enzymes are needed to degrade the neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues, and some oligosaccharides. [1]

44 relations: Anticonvulsant, Argentina, Ashkenazi Jews, Ataxia, Autism, Biopsy, Cell (biology), Central nervous system, Cherry-red spot, Chromosome 5, Clinical urine tests, Cyprus, Dementia, DNA, Embryo, Enzyme, Enzyme assay, Exon, Ganglioside, Gene, Genetic code, Genetic testing, Genome, Globoside, GM2-gangliosidosis, AB variant, Hepatosplenomegaly, HEXB, Hexosaminidase, Human eye, Lipid storage disorder, Liver, Lysosome, Maronite Church, Métis in Canada, Metabolic disorder, Miglustat, Motor skill, Muscle, Organomegaly, Paralysis, Pneumonia, Sampling bias, Saskatchewan, Tay–Sachs disease.

Anticonvulsant

Anticonvulsants (also commonly known as antiepileptic drugs or as antiseizure drugs) are a diverse group of pharmacological agents used in the treatment of epileptic seizures.

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Argentina

Argentina, officially the Argentine Republic (República Argentina), is a federal republic located mostly in the southern half of South America.

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Ashkenazi Jews

Ashkenazi Jews, also known as Ashkenazic Jews or simply Ashkenazim (אַשְׁכְּנַזִּים, Ashkenazi Hebrew pronunciation:, singular:, Modern Hebrew:; also), are a Jewish diaspora population who coalesced in the Holy Roman Empire around the end of the first millennium.

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Ataxia

Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that includes gait abnormality.

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Autism

Autism is a developmental disorder characterized by troubles with social interaction and communication and by restricted and repetitive behavior.

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Biopsy

A biopsy is a medical test commonly performed by a surgeon, interventional radiologist, or an interventional cardiologist involving extraction of sample cells or tissues for examination to determine the presence or extent of a disease.

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Cell (biology)

The cell (from Latin cella, meaning "small room") is the basic structural, functional, and biological unit of all known living organisms.

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Central nervous system

The central nervous system (CNS) is the part of the nervous system consisting of the brain and spinal cord.

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Cherry-red spot

A cherry-red spot is a finding in the macula of the eye in a variety of lipid storage disorders and in central retinal artery occlusion.

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Chromosome 5

Chromosome 5 is one of the 23 pairs of chromosomes in humans.

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Clinical urine tests

Clinical urine tests are various tests of urine for diagnostic purposes.

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Cyprus

Cyprus (Κύπρος; Kıbrıs), officially the Republic of Cyprus (Κυπριακή Δημοκρατία; Kıbrıs Cumhuriyeti), is an island country in the Eastern Mediterranean and the third largest and third most populous island in the Mediterranean.

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Dementia

Dementia is a broad category of brain diseases that cause a long-term and often gradual decrease in the ability to think and remember that is great enough to affect a person's daily functioning.

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DNA

Deoxyribonucleic acid (DNA) is a thread-like chain of nucleotides carrying the genetic instructions used in the growth, development, functioning and reproduction of all known living organisms and many viruses.

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Embryo

An embryo is an early stage of development of a multicellular diploid eukaryotic organism.

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Enzyme

Enzymes are macromolecular biological catalysts.

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Enzyme assay

Enzyme assays are laboratory methods for measuring enzymatic activity.

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Exon

An exon is any part of a gene that will encode a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing.

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Ganglioside

A ganglioside is a molecule composed of a glycosphingolipid (ceramide and oligosaccharide) with one or more sialic acids (e.g. n-acetylneuraminic acid, NANA) linked on the sugar chain.

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Gene

In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.

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Genetic code

The genetic code is the set of rules used by living cells to translate information encoded within genetic material (DNA or mRNA sequences) into proteins.

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Genetic testing

Genetic testing, also known as DNA testing, allows the determination of bloodlines and the genetic diagnosis of vulnerabilities to inherited diseases.

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Genome

In the fields of molecular biology and genetics, a genome is the genetic material of an organism.

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Globoside

A globoside is a type of glycosphingolipid with more than one sugar as the side chain (or R group) of ceramide.

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GM2-gangliosidosis, AB variant

GM2-gangliosidosis, AB variant is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve cells in the brain and spinal cord.

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Hepatosplenomegaly

Hepatosplenomegaly (commonly abbreviated HSM) is the simultaneous enlargement of both the liver (hepatomegaly) and the spleen (splenomegaly).

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HEXB

Beta-hexosaminidase subunit beta is an enzyme that in humans is encoded by the HEXB gene.

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Hexosaminidase

Hexosaminidase (beta-acetylaminodeoxyhexosidase, N-acetyl-beta-D-hexosaminidase, N-acetyl-beta-hexosaminidase, N-acetyl hexosaminidase, beta-hexosaminidase, beta-acetylhexosaminidinase, beta-D-N-acetylhexosaminidase, beta-N-acetyl-D-hexosaminidase, beta-N-acetylglucosaminidase, hexosaminidase A, N-acetylhexosaminidase, beta-D-hexosaminidase) is an enzyme involved in the hydrolysis of terminal N-acetyl-D-hexosamine residues in N-acetyl-β-D-hexosaminides.

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Human eye

The human eye is an organ which reacts to light and pressure.

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Lipid storage disorder

A lipid storage disorder (or lipidosis) can be any one of a group of inherited metabolic disorders in which harmful amounts of fats or lipids accumulate in some of the body’s cells and tissues.

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Liver

The liver, an organ only found in vertebrates, detoxifies various metabolites, synthesizes proteins, and produces biochemicals necessary for digestion.

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Lysosome

A lysosome is a membrane-bound organelle found in nearly all animal cells.

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Maronite Church

The Maronite Church (الكنيسة المارونية) is an Eastern Catholic sui iuris particular church in full communion with the Pope and the Catholic Church, with self-governance under the Code of Canons of the Eastern Churches.

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Métis in Canada

The Métis in Canada are a group of peoples in Canada who trace their descent to First Nations peoples and European settlers.

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Metabolic disorder

A metabolic disorder can happen when abnormal chemical reactions in the body alter the normal metabolic process.

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Miglustat

Miglustat (OGT 918, N-butyl-deoxynojirimycin) is a drug developed by Oxford GlycoSciences and marketed by Actelion and is used primarily to treat type I Gaucher disease (GD1).

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Motor skill

A motor skill is a learned ability to cause a predetermined movement outcome with maximum certainty.

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Muscle

Muscle is a soft tissue found in most animals.

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Organomegaly

Organomegaly is the abnormal enlargement of organs.

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Paralysis

Paralysis is a loss of muscle function for one or more muscles.

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Pneumonia

Pneumonia is an inflammatory condition of the lung affecting primarily the small air sacs known as alveoli.

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Sampling bias

In statistics, sampling bias is a bias in which a sample is collected in such a way that some members of the intended population are less likely to be included than others.

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Saskatchewan

Saskatchewan is a prairie and boreal province in western Canada, the only province without natural borders.

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Tay–Sachs disease

Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord.

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Redirects here:

B variant of the Hexosaminidase GM2 gangliosidosis, Beta-hexosaminidase-beta-subunit deficiency, GM2 gangliosidosis, type 2, GM2 gangliosidosis, type II, Hexosaminidase A and B Deficiency Disease, Sandhoff, Sandhoff Disease, Sandhoff's disease, Sandhoff-Jatzkewitz-Pilz disease, Total hexosaminidase deficiency.

References

[1] https://en.wikipedia.org/wiki/Sandhoff_disease

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