About The Medical Condition Juvenile Gangliosidosis GM1
Find the definition of the medical term Juvenile Gangliosidosis GM1. Juvenile Gangliosidosis GM1 defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Juvenile Gangliosidosis GM1
| Juvenile Gangliosidosis GM1 Medical Condition |
|---|
What's The Definition Of The Medical Condition Juvenile 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
- Cell Numbers ‐ A count of the number of cells of a specific kind, usually measured…
- Promeran ‐ A mercurial compound that has been used as a diuretic but is…
- Deoxygenated Sickle Hemoglobin ‐ An abnormal hemoglobin resulting from the substitution of valine…
- Meningococcal Infections ‐ Infections with bacteria of the species NEISSERIA…
- Ganglionic Blockaders ‐ Agents having as their major action the interruption of neural…
- Hand Navicular Bones ‐ The bone which is located most lateral in the proximal row of…
- Mudminnow ‐ A family of ESOCIFORMES comprising the mudminnows. There are…
- CCAAT-Enhancer-Binding Protein ‐ A class of proteins that were originally identified by their…
- Tennis ‐ A game played by two or four players with rackets and an elastic…
- Motifs, EF Hand ‐ Calcium-binding motifs composed of two helixes (E and F) joined…