About The Medical Condition Generalized Gangliosidosis
Find the definition of the medical term Generalized Gangliosidosis. Generalized Gangliosidosis defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Generalized Gangliosidosis
| Generalized Gangliosidosis Medical Condition |
|---|
What's The Definition Of The Medical Condition Generalized Gangliosidosis?
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
- Projections and Predictions ‐ The prediction or projection of the nature of future problems…
- MOPEG ‐ Synthesized from endogenous epinephrine and norepinephrine in…
- Chromosome 2 ‐ A specific pair of human chromosomes in group A (CHROMOSOMES,…
- Protease Inhibitors, Cysteine ‐ Exogenous and endogenous compounds which inhibit CYSTEINE…
- National Academy of Sciences (U.S.) ‐ A United States organization of distinguished scientists and…
- Sinusitis, Frontal ‐ Inflammation of the frontal sinus; in most cases the infection…
- Defibrillator, Implantable ‐ Implantable devices which continuously monitor the electrical…
- Clorazepate Dipotassium ‐ A water-soluble benzodiazepine derivative effective in the treatment…
- Nerve, Sciatic ‐ A nerve which originates in the lumbar and sacral spinal cord…
- Memories, Shortterm ‐ Temporary storage of information for a few seconds to hours,…