Disease Information for N-Acetylglutamate synthetase deficiency

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Clinical Manifestations
Signs & Symptoms
Infants Sicken on Feeding
Nausea
Vomiting
Vomiting in infancy
Coma/infant or newborn
Lethargy/torpor
Unconscious/Narcosis status
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Neonate-newborn
Laboratory Tests
Abnormal Lab Findings - Increased
Ammonia blood (Lab)
URINE Ammonia
Associated Diseases & Rule outs
Associated Disease & Complications
Coma in Children
Coma/Unconscious
Hyperammonemia
Disease Synergy - Causes
Synergy/Specific Diet Items
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/N-Acetylglutamate synthetase deficiency
Pathophysiology/Urea cycle metabolic defect
Pathophysiology/Mitochondrial lesion
Process
PROCESS/Aminoacid metabolic disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic/storage disorder (category)
Synonyms
Synonym
N Acetylglutamate synthetase deficiency, Synonym/NAGS Enzyme/Metabolic disorder
Treatment
Drug Therapy - Indication
RX/Arginine supplement
RX/Sodium Benzoate supplement
Other Treatments
TX/Low protein diet
TX/Sodium Phenylacetate/Phenylbutyrate/benzoate
Definition

N-Acetyl Glutamate Synthetase Deficiency; Hyperammonemia Due to N-Acetylglutamate synthetase Deficiency; NAGS Deficiency; N-acetylglutamate synthetase (NAGS) deficiency is a rare genetic disorder characterized by complete or partial lack of the enzyme N-acetylglutamate synthetase (NAGS); NAGS is one of six enzymes that play a role in the break down and removal of nitrogen from the body, a process known as the urea cycle; The lack of the NAGS enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood; Excess ammonia, which is a neurotoxin, travels to the central nervous system through the blood, resulting in the symptoms and physical findings associated with NAGS deficiency; Symptoms include vomiting, refusal to eat, progressive lethargy, and coma; NAGS deficiency is inherited as an autosomal recessive trait; 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; Failure to break down nitrogen results in the abnormal accumulation of nitrogen, in the form of ammonia, in the blood

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External Links Related to N-Acetylglutamate synthetase deficiency
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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