About The Medical Condition Arginase Deficiency Disease
Find the definition of the medical term Arginase Deficiency Disease. Arginase Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Arginase Deficiency Disease
| Arginase Deficiency Disease Medical Condition |
|---|
What's The Definition Of The Medical Condition Arginase Deficiency Disease?
A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme type I ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)
|
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
- Intelligence Tests ‐ Standardized tests that measure the present general ability or…
- Choking ‐ Any hindrance to the passage of air into and out of…
- Tracts, Olfactory ‐ Set of nerve fibers conducting impulses from olfactory receptors…
- Thrombolysin ‐ A product of the lysis of plasminogen (profibrinolysin) by PLASMINOGEN…
- Mercury Poisoning, Nervous System ‐ Neurologic disorders associated with exposure to inorganic and…
- Bauxite ‐ An oxide of aluminum, occurring in nature as various minerals…
- Initiation, Peptide Chain ‐ The process whereby the formation of a peptide chain is started.…
- Macrosomias, Fetal ‐ A complication of several conditions including DIABETES MELLITUS…
- Adenocarcinoma, Sebaceous ‐ A malignant tumor composed of cells showing differentiation toward…
- Switching, Isotype ‐ Gene rearrangement of the B-lymphocyte which results in a substitution…