About The Medical Condition Carbohydrate-Deficient Glycoprotein Syndrome
Find the definition of the medical term Carbohydrate-Deficient Glycoprotein Syndrome. Carbohydrate-Deficient Glycoprotein Syndrome defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Carbohydrate-Deficient Glycoprotein Syndrome
| Carbohydrate-Deficient Glycoprotein Syndrome Medical Condition |
|---|
What's The Definition Of The Medical Condition Carbohydrate-Deficient Glycoprotein Syndrome?
An inborn error of carbohydrate metabolism manifesting as a genetic multisystem disorder of autosomal recessive inheritance. A predominant feature is severe central and peripheral nervous system involvement resulting in psychomotor retardation, seizures, cerebellar ataxia, and other symptoms which include growth retardation, retinitis pigmentosa, hypothyroidism, and fatty liver. The notable biochemical feature is the deficiency of a large number of blood glycoproteins and decreased activities of various blood coagulation factors.
|
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
- Tryptophan-Specific tRNA ‐ A transfer RNA which is specific for carrying tryptophan to sites…
- Antibodies, HIV-Associated ‐ Antibodies reactive with human immunodeficiency virus (HIV, previously…
- Practices, Mortuary ‐ Activities associated with the physical burial of the dead. It…
- Breakbone Fever Virus ‐ A species of the genus FLAVIVIRUS which causes an acute febrile…
- Self Psychology ‐ Psychoanalytic theory focusing on interpretation of behavior…
- Micropsia ‐ Visual impairments limiting one or more of the basic functions…
- Venezuelan Equine Encephalomyelitides ‐ A form of arboviral encephalitis endemic to Central America and…
- Regulon ‐ In eukaryotes, a genetic unit consisting of a noncontiguous group…
- Painful Diabetic Neuropathies ‐ Peripheral, autonomic, and cranial nerve disorders that are associated…
- Cardiac Surgical Procedures ‐ Surgery performed on…