About The Medical Condition Sandhoff Disease, Infantile
Find the definition of the medical term Sandhoff Disease, Infantile. Sandhoff Disease, Infantile defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Sandhoff Disease, Infantile
| Sandhoff Disease, Infantile Medical Condition |
|---|
What's The Definition Of The Medical Condition Sandhoff Disease, Infantile?
An autosomal inherited disease caused by deficiency of the enzymes hexosaminidase A & B (see BETA-N-ACETYLHEXOSAMINIDASE) which leads to an accumulation of GM2 ganglioside and the sphingolipid globoside in neurons and other organs. Clinical manifestations resemble TAY-SACHS DISEASE, but the disease is not limited to Askenazi Jews and may feature hepatosplenomegaly. The infantile form presents in the first 4 months of life with psychomotor delay, hypotonia followed by spasticity, and cherry red spots in the macula. Rare juvenile and adult forms have been reported. (From Menkes, Textbook of Child Neurology, 5th ed, p92)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Diaminobenzidine Oxidase ‐ A group of enzymes including those oxidizing primary monoamines,…
- Class II Antigen ‐ Large, transmembrane, non-covalently linked glycoproteins (alpha…
- Framework Region ‐ That region of the immunoglobulin (antibody) molecule that varies…
- Reforms, Agrarian ‐ The science of utilization, distribution, and consumption of…
- Management Information System ‐ Systems designed to provide information primarily concerned with…
- Failure, Progressive Autonomic ‐ A progressive neurodegenerative condition of the central and…
- Disease, Paranasal Sinus ‐ Diseases affecting or involving the PARANASAL SINUSES and generally…
- Area, Preoptic ‐ Region of hypothalamus between the anterior commissure and optic…
- Epilepsies, Musicogenic Reflex ‐ A subtype of epilepsy characterized by seizures that are consistently…
- True Toad ‐ The family of true toads belonging to the order Anura. The genera…