GM2-gangliosidosis, AB variant

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 32644
ICD10 =
ICD9 =
ICDO =
OMIM = 272750
MedlinePlus =
eMedicineSubj = ped
eMedicineTopic = 3016
MeshID = D049290

GM2-gangliosidosis, AB variant is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve cells in the brain and spinal cord. It has a similar pathology to Sandhoff disease and Tay-Sachs disease.

ymptoms

Signs and symptoms of the AB variant begin in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. As the disease progresses, infants develop seizures, vision and hearing loss, mental retardation, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with the AB variant usually live only into early childhood.

Genetics

Mutations in the "GM2A" gene cause GM2-gangliosidosis, AB variant. The "GM2A" gene provides instructions for making a protein called the GM2 activator. This protein is required for the normal function of beta-hexosaminidase A, a critical enzyme in the nervous system that breaks down a fatty substance called GM2 ganglioside. If mutations disrupt the activity of the GM2 activator, beta-hexosaminidase A cannot perform its normal function. As a result, GM2 ganglioside can accumulate to toxic levels in the brain and spinal cord. Progressive damage caused by the buildup of GM2 ganglioside leads to the destruction of nerve cells, which causes the severe medical problems characteristic of the AB variant. This condition is inherited in an autosomal recessive pattern.

ee also

*Sandhoff disease
*Tay-Sachs disease

External links

"This article incorporates public domain text from [http://ghr.nlm.nih.gov The U.S. National Library of Medicine] "


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Look at other dictionaries:

  • GM2-gangliosidosis, B variant — This disorder known as Tay Sachs disease (TSD) is concisely defined by OMIM (Online Mendelian Inheritance in Man) as “an autosomal recessive, progressive neurodegenerative disorder, which in the classic infantile form, is usually fatal by age 2… …   Medical dictionary

  • GM2 g. AB variant — a GM2 gangliosidosis caused by mutation in the GM2Agene (locus: 5q31.3 q33.1), which encodes GM2 activator protein, a sphingolipid activator protein necessary for hexosaminidase A activity; this variant is clinically identical to infantile Tay… …   Medical dictionary

  • GM2-gangliosidosis, type 1 — This disorder known as Tay Sachs disease (TSD) is concisely defined by OMIM (Online Mendelian Inheritance in Man) as “an autosomal recessive, progressive neurodegenerative disorder, which in the classic infantile form, is usually fatal by age 2… …   Medical dictionary

  • Type 1 GM2-gangliosidosis — This disorder known as Tay Sachs disease (TSD) is concisely defined by OMIM (Online Mendelian Inheritance in Man) as “an autosomal recessive, progressive neurodegenerative disorder, which in the classic infantile form, is usually fatal by age 2… …   Medical dictionary

  • B variant GM2-gangliosidosis — This disorder known as Tay Sachs disease (TSD) is concisely defined by OMIM (Online Mendelian Inheritance in Man) as “an autosomal recessive, progressive neurodegenerative disorder, which in the classic infantile form, is usually fatal by age 2… …   Medical dictionary

  • GM2 activator deficiency — GM2 gangliosidosis, AB variant …   Medical dictionary

  • GM2 activator protein — a sphingolipid activator protein that binds GM2 ganglioside and related glycosphingolipids and presents them to hexosaminidase A for cleavage; it is necessary for enzyme activity. Deficiency results in GM2 gangliosidosis, AB variant …   Medical dictionary

  • gangliosidosis — Any disease characterized, in part, by the abnormal accumulation within the nervous system of specific gangliosides, e.g., GM2 g., Tay Sachs disease, caused by hexosaminidase A enzyme deficiency with accumulation of GM2 ganglioside. SYN …   Medical dictionary

  • GM 2 gangliosidosis — can refer to: * Tay Sachs disease * Sandhoff disease * GM2 gangliosidosis, AB variant …   Wikipedia

  • hexosaminidase activator deficiency — GM2 gangliosidosis, AB variant …   Medical dictionary


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