Urea cycle disorders
By Julianne RemingtonThe Gale Group Inc., Gale.. Gale Encyclopedia of Genetic Disorders Part I, 2002more »
Definition ...
Urea Cycle
The urea cycle is a cycle of biochemical reactions occurring in many animals that produces urea (NH2)2CO from ammonia (NH3). This cycle was the first metabolic cycle discovered .
Urea cycle
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Symptoms, Diagnosis & Tests ...
The urea cycle is a process in which waste (ammonia) is removed from the body. When you eat proteins, the body breaks them down into amino acids. Leftover amino acids turn into ammonia and must be removed from the body.
Urea cycle defects with resulting hyperammonemia are due to deficiencies of the enzymes involved in the metabolism of waste nitrogen. The enzyme deficiencies lead to disorders with nearly identical clinical presentations.
Urea cycle disorders are characterized by hyperammonemia under catabolic or protein-loading conditions.
Urea cycledefects
Fatty acid oxidation disorders
Organic acidemias
Respiratory chain defects
Disorders of gluconeogenesis
Carbohydrate metabolism disorders (glycogenstorage diseases I and III, hereditary fructose intolerance) ...
The urea cycle disorders are a group of rare disorders affecting the urea cycle, a series of biochemical processes in which nitrogen is converted into urea and removed from the body through the urine. Nitrogen is a waste product of protein metabolism.
Gene Reviews: Urea Cycle Disorders Overview
Gene Tests: Carbamoylphosphate Synthetase I Deficiency
MedlinePlus Encyclopedia: Hereditary urea cycle abnormality ...
Citrullinemia is a urea cycle disorder which is an inherited metabolic disease, and stems from a deficiency of Argininosuccinic acid Synthetase.
National Urea Cycle Disorders Foundation - Support Group
National Urea Cycle Disorders Foundation - Urea Cycle Disorders - Support Group
National Vaccine Information Center - Support Group ...
acidemia, Saccharopinuria) - Transport (Cystinuria, Cystinosis, Hartnup disease, Fanconi syndrome, Oculocerebrorenal syndrome, Lysinuric protein intolerance) - Sulfur (Cystathioninuria, Hawkinsinuria, Homocystinuria, Hypermethioninemia) - Urea cycle ...
N-acetyl Glutamate Synthase Deficiency see Urea Cycle Disorders
Naevus Flammus see Vascular Birthmarks
Nager syndrome
NAGS Deficiency see Urea Cycle disorders
Nail-Patella syndrome
Narcolepsy
NBCCS see Gorlin syndrome
Necrotising Fasciitis ...
An enzyme that catalyzes the formation of carbamoyl phosphate from ATP, carbon dioxide, and ammonia. This enzyme is specific for arginine biosynthesis or the urea cycle.
Liver failure
Severe congestive heart failure
Erythroblastosis fetalis
Gastrointestinal (GI) bleeding - usually in the upper GI tract
Genetic diseases of the urea cycle
Leukemia
Pericarditis
Reye syndrome
Certain drugs ...
Citrulline is created in the body as an intermediate in the conversion of the amino acid ornithine to arginine in a metabolic pathway called the urea cycle. Citrulline was first isolated from watermelon.
 See also: Deficiency, Symptom, Kidney, Pregnancy, Ammonia
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