About The Medical Condition Adult Gangliosidosis GM1
Find the definition of the medical term Adult Gangliosidosis GM1. Adult Gangliosidosis GM1 defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Adult Gangliosidosis GM1
| Adult Gangliosidosis GM1 Medical Condition |
|---|
What's The Definition Of The Medical Condition Adult Gangliosidosis GM1?
A form of gangliosidosis characterized by accumulation of G(M1) GANGLIOSIDE and oligosaccharides in lysosomes caused by an absence or severe deficiency of the enzyme BETA-GALACTOSIDASE (type A1). The three phenotypes of this disorder are infantile (generalized), juvenile, and adult. The infantile form is characterized by skeletal abnormalities, hypotonia, poor psychomotor development, hirsutism, hepatosplenomegaly, and facial abnormalities. The juvenile form features hyperacusis, seizures, and psychomotor retardation. The adult form features progressive intellectual deterioration, involuntary movements, ataxia, and spasticity. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)
|
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
- Antigens, HLA-BR ‐ A group of D-related human leukocyte antigens that are polymorphic…
- Gene Expression Microarray Analysis ‐ Hybridization of a nucleic acid sample to a very large set of…
- Organization, Nongovernmental ‐ Administration and functional structures for the purpose of collectively…
- Pieces, Protective Mouth ‐ Devices or pieces of equipment placed in or around the mouth…
- Sphincterotomies, Transduodenal ‐ Surgery of the smooth muscle sphincter of the hepatopancreatic…
- Diabetic Neuropathy ‐ Peripheral, autonomic, and cranial nerve disorders that are associated…
- Cystitis, Chronic Interstitial ‐ A condition of the bladder occurring predominantly in women,…
- Occupational Noises ‐ Noise present in occupational, industrial, and factory…
- Arnold-Chiari Malformation, Type I ‐ A group of congenital malformations involving the brainstem,…
- Electromagnetic Radiation, Non-Ionizing ‐ Electromagnetic radiation which does not produce ions in matter…