About The Medical Condition Gangliosidosis GM1, Adult
Find the definition of the medical term Gangliosidosis GM1, Adult. Gangliosidosis GM1, Adult defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Gangliosidosis GM1, Adult
| Gangliosidosis GM1, Adult Medical Condition |
|---|
What's The Definition Of The Medical Condition Gangliosidosis GM1, Adult?
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
- Trophoblastic Neoplasms ‐ Trophoblastic growth, which may be gestational or nongestational…
- Acetohydroxy Acid Reductoisomerase ‐ An enzyme involved in the biosynthesis of isoleucine and valine.…
- Misoprostol, (11alpha,13E,16R)-Isomer ‐ A synthetic analog of natural prostaglandin E1. It produces a…
- Phobia ‐ Anxiety disorders in which the essential feature is persistent…
- Proton-Translocating ATPases, Bacterial ‐ Membrane-bound proton-translocating ATPases that serve two important…
- Apoenzymes ‐ The protein components of the enzyme minus any cofactors or prosthetic…
- Neck Dissections, Radical ‐ The most commonly performed major operation for head and neck…
- Activations, Amino Acid ‐ The first step of protein synthesis, whereby an amino acid reacts…
- Acupoints ‐ Designated locations along nerves or organ meridians for inserting…
- Deficiency Disease, Apolipoprotein B ‐ A disorder of lipid metabolism inherited as an autosomal recessive…