About The Medical Condition Hyperargininemia
Find the definition of the medical term Hyperargininemia. Hyperargininemia defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Hyperargininemia
| Hyperargininemia Medical Condition |
|---|
What's The Definition Of The Medical Condition Hyperargininemia?
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
- Meningeal Cancers ‐ Benign and malignant neoplastic processes that arise from or…
- Parenthood Status ‐ Persons functioning as natural, adoptive, or substitute parents.…
- Relationships, Drug Dose-Response ‐ The relationship between the dose of an administered drug and…
- Protein Inducer MGI ‐ Glycoproteins found in a subfraction of normal mammalian plasma…
- Lichen Nitidus ‐ A chronic inflammatory disease characterized by shiny, flat-topped,…
- Bone, Carpal ‐ The eight bones of the wrist: capitate bone, hamate bone, lunate…
- Apolipoprotein A-I ‐ The major protein component of high density lipoproteins. It…
- Reviews, Continued Stay ‐ Review of the medical necessity of hospital or other health facility…
- CCAAT-Enhancer-Binding Protein ‐ A class of proteins that were originally identified by their…
- Levonorepinephrine ‐ Precursor of epinephrine that is secreted by the adrenal medulla…