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
- Reticulosis, Histiocytic Medullary ‐ A rare, usually rapidly progressive disorder, characterized by…
- Nitroxidergic Neuron ‐ Nerve cells where transmission is mediated by…
- Pancreatic Diversion, Bilio ‐ A surgical procedure which diverts pancreatobiliary secretions…
- Islet Cell Tumor, Malignant ‐ A carcinoma of the islets of…
- Impression Technics, Dental ‐ Procedure of producing an imprint or negative likeness of the…
- Activities, Locomotor ‐ The physical activity of an organism as a behavioral…
- Benzilate, Quinuclidinyl ‐ A high-affinity muscarinic antagonist commonly used as a tool…
- Unwanted Pregnancies ‐ Pregnancy, usually accidental or unplanned, that is not desired…
- Japanese Quail ‐ A genus of birds (family Phasianidae) containing the common European…
- Rate, Fetal Heart ‐ The heart rate of the fetus. The normal range at term is between…