Disease Information for Carbamoyl phosphate synthetase defic

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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
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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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