About The Medical Condition GM1 Gangliosidosis

ClusterMed
  1. ClusterMed.info
  2. Medical Conditions
  3. G Illnesses And Diseases
  4. Gm
  5. GM1 Gangliosidosis

Find the definition of the medical term GM1 Gangliosidosis. GM1 Gangliosidosis defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.

GM1 Gangliosidosis

GM1 Gangliosidosis Medical Condition Defined & Explained
GM1 Gangliosidosis Medical Condition

What's The Definition Of The Medical Condition GM1 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