| GM2 gangliosidoses Classification and external resources |
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| ICD-10 | E75.0 |
|---|---|
| ICD-9 | 330.1 |
| OMIM | 272800 268800, 272750 |
| DiseasesDB | 12916 29469, 32644 |
| MeSH | D020143 |
The GM2 gangliosidoses cause the body to store excess acidic fatty materials in tissues and cells, most notably in nerve cells. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify Diseases The International Statistical Classification of Diseases and Related Health Problems 10th Revision ( ICD -10) is a coding of diseases and signs symptoms abnormal findings E00-E35 - Endocrine diseases (E00-E07 Thyroid gland / Thyroid hormone ( Congenital iodine-deficiency syndrome ( The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify Diseases The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. The Mendelian Inheritance in Man project is a Database that catalogues all the known Diseases with a genetic component, and—when possible—links them The Diseases Database is a free Website that provides information about the relationships between medical conditions Symptoms, and Medications. Medical Subject Headings ( MeSH) is a huge Controlled vocabulary (or metadata system for the purpose of indexing journal articles and books Gangliosidosis is a Lipid storage disorder caused by the accumulation of lipids known as Gangliosides There are two distinct genetic causes of the disease These disorders result from a deficiency of the enzyme beta-hexosaminidase. Hexosaminidase is an Autolysin Enzyme involved in the Hydrolysis of several molecules containing Hexose. The GM2 disorders include:
Tay-Sachs disease
Tay-Sachs disease (also known as GM2 variant B). Tay-Sachs disease (abbreviated TSD, also known as GM2 Gangliosidosis, Hexosaminidase A deficiency or Sphingolipidosis) is a Genetic Tay-Sachs and its variant forms are caused by a deficiency in the enzyme beta-hexosaminidase A. The incidence is particularly high among Eastern European and Ashkenazi Jewish populations, as well as certain French Canadians and Louisianan Cajuns. Population of Canada: 31612895 (2006 Census Provinces and territories Metropolitan areas Cities Affected children appear to develop normally for the first few months of life. Symptoms begin by 6 months of age and include progressive loss of mental ability, dementia, decreased eye contact, increased startle reflex to noise, progressive loss of hearing leading to deafness, difficulty in swallowing, blindness, cherry-red spots in the retinas, and some paralysis. Dementia (from Latin de- "apart away" + Mens ( genitive mentis) "mind" is the progressive decline Seizures may begin in the child’s second year. Children may eventually need a feeding tube and they often die by age 4 from recurring infection. An infection is the detrimental Colonization of a host Organism by a foreign Species. No specific treatment is available. Anticonvulsant medications may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. A much rarer form of the disorder, which occurs in patients in their twenties and early thirties, is characterized by unsteadiness of gait and progressive neurological deterioration.
Sandhoff disease
Sandhoff disease (variant AB). Sandhoff disease, also called Hexosaminidase A and B deficiency, is an Autosomal Recessive lipid storage disorder that causes progressive destruction GM2-gangliosidosis AB variant is a rare Autosomal recessive Metabolic disorder that causes progressive destruction of nerve cells in the brain and spinal cord This is a severe form of Tay-Sachs disease. Mutations in DNA lead to no active Hexosaminidase A or Hexosaminidase B enzymes. Inactive Hexosaminidase enzymes lead to Ganglioside (GM2) accumulation in lysosomes. Onset usually occurs at the age of 6 months and is not limited to any ethnic group. Neurological symptoms may include progressive deterioration of the central nervous system, motor weakness, early blindness, marked startle response to sound, spasticity, myoclonus (shock-like contractions of a muscle), seizures, macrocephaly (an abnormally enlarged head), and cherry-red spots in the eye. Myoclonus (maɪˈɒklənəs is brief involuntary twitching of a Muscle or a group of muscles Macrocephaly (from the Ancient Greek μακρό- macro- long- + -κέφαλος -kephalos -head occurs when the head is abnormally Other symptoms may include frequent respiratory infections, murmurs of the heart, doll-like facial features, and an enlarged liver and spleen. There is no specific treatment for Sandhoff disease. As with Tay-Sachs disease, supportive treatment includes keeping the airway open and proper nutrition and hydration. Anticonvulsant medications may initially control seizures. Children generally die by age 3 from respiratory infections.
See also
GM2 is a type of Ganglioside. It is associated with GM2 gangliosidoses (for example Tay-Sachs disease.Dapyx Software network: MP3 Explorer | Ebook Manager | Zenithic