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Disease Information for Carbamoyl phosphate synthetase defic

Clinical Manifestations
Signs & Symptoms: Infants Sicken on Feeding; Nausea; Vomiting; Vomiting in infancy; Vomiting recurrent
: Coma/infant or newborn; Lethargy/torpor; Unconscious/Narcosis status
: Rapid Breathing; Tachypnea/Increased respiratory rate
Typical Clinical Presentation: Presentation/Hyperammonemia infant Resp alkalosis; Stroke syndrome kids/metabolic causes
Clinical Presentation & Variations: Presentation/Death in infancy; Presentation/Non diabetic Ketoacidosis Kids infants
Disease Progression: Course/Chronic disorder; Course/Chronic only; Course/Potentially lethal/untreated; Lethal Potential; Onset infancy/worst variant; Onset/Childhood; Onset/Infancy
Demographics & Risk Factors
Population Group: Child; Population/Pediatrics population
Sex & Age Groups: Population/Child; Population/Child-Infant Only; Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured): DNATest specific/genetics laboratory/abnormality (Lab)
Abnormal Lab Findings - Decreased: Citrulline, serum (Lab)
Abnormal Lab Findings - Increased: Ammonia blood (Lab); Anion gap (Lab); pH, arterial blood (Lab)
: URINE Ammonia
Diagnostic Test Results
Other Tests & Procedures: Amniocentesis/Abnormality; Amniocentesis/Restrict fragment length polymorph (RFLP)
Associated Diseases & Rule outs
Associated Disease & Complications: Acidosis; Acidosis, metabolic; Alkalosis, respiratory; Coma in Children; Coma/Unconscious; Death Newborn/Perinatal; Death Outcome; Encephalopathy/CNS effect; Hyperammonemia; Urea cycle/metabolic disorder; Vomiting Excess/Chronic
Disease Synergy - Causes: Synergy/Specific Diet Items
Disease Mechanism & Classification
Class: CLASS/Pediatric disorders (ex)
Pathophysiology: Pathophysiology/Early defect urea cycle; Pathophysiology/Gene locus 2q35; Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations); Pathophysiology/Urea cycle metabolic defect
: Pathophysiology/Mitochondrial lesion
Process: PROCESS/Aminoacid metabolic disorder (ex); PROCESS/Enzyme defect/Metabolic disorder (ex); PROCESS/Hereditofamilial (category); PROCESS/Metabolic/storage disorder (category)
Synonyms
Synonym: CAPS deficiency, CARBAMOLY PHOSPHATE SYNTHETASE I DEFIC DIS, Carbamoyl phosph synthase def, Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease, CARBAMOYL PHOSPHATE SYNTHASE AMMONIA DEFIC DIS, Carbamoyl phosphate synthase deficiency, CARBAMOYL PHOSPHATE SYNTHASE I DEFIC DIS, Carbamoyl Phosphate Synthase I Deficiency Disease, carbamoyl phosphate synthetase deficiency, CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, Carbamoyl Phosphate Synthetase I Deficiency Disease, CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY HYPERAMMONEMIA DUE TO, Carbamoyl phosphate synthethase deficiency, CARBAMOYLPHOSPHATE SYNTHETASE I DEFIC DIS, Carbamoylphosphate synthetase I deficiency, Carbamoylphosphate Synthetase I Deficiency Disease, CARBAMYL PHOSPHATE SYNTHETASE DEFIC DIS, carbamyl phosphate synthetase deficiency, Carbamyl Phosphate Synthetase Deficiency Disease, CARBAMYL PHOSPHATE SYNTHETASE I DEFIC DIS, Carbamyl Phosphate Synthetase I Deficiency Disease, Carbomyl phosphate synthethase deficiency, Congenital hyperammonaemia type I, congenital hyperammonemia type I, Congenital hyperammonemia type I (disorder), CPS Carbamoyl phosphate synthase deficiency, CPS Carbamoyl phos synthse def, CPS deficiency, CPS I deficiency, DEFIC DIS CARBAMOYL PHOSPHATE SYNTHASE, DEFIC DIS CARBAMOYL PHOSPHATE SYNTHASE AMMONIA, DEFIC DIS CARBAMOYLPHOSPHATE SYNTHETASE I, DEFIC DIS CARBAMYL PHOSPHATE SYNTHETASE, Deficiency Disease Carbamoyl Phosphate Synthase, Deficiency Disease Carbamoyl Phosphate Synthase (Ammonia), Deficiency Disease Carbamoylphosphate Synthetase I, Deficiency Disease Carbamyl Phosphate Synthetase, Hyperammonemia type I, Synonym/CPS Enzyme/Metabolic disorder
Treatment
Drug Therapy - Indication: RX/Arginine supplement; RX/Sodium Benzoate supplement
Other Treatments: TX/Diet restriction treatment.; TX/Diet supplement/amino acids; TX/Exchange transfusion.; TX/Low protein diet; TX/Sodium Phenylacetate/Phenylbutyrate/benzoate
Definition: Be the first to add a definition for Carbamoyl phosphate synthetase defic
External Links Related to Carbamoyl phosphate synthetase defic: 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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