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- Disease Information
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Disease Processes ▼
- Auto Immune
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Disease Information for Citrullinuria
- Clinical Manifestations
- Signs & Symptoms
- Infants Sicken on Feeding
- 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
- Laboratory Tests
- Abnormal Lab Findings (Non Measured)
- DNATest specific/genetics laboratory/abnormality (Lab)
- Enzyme Assay plasma/tissue/fibroblast abnormal
- Newborn screening tests abnormal (extended)
- Abnormal Lab Findings - Increased
- Ammonia blood (Lab)
- Citrulline, serum (Lab)
- URINE Amino acids
- Diagnostic Test Results
- Other Tests & Procedures
- Amniocentesis/Prenatal enzyme assay/abnormal
- Pathology
- BX/Liver biopsy Enzyme assay abnormal
- Associated Diseases & Rule outs
- Associated Disease & Complications
- Hyperammonemia
- Hypoglycemia, infantile
- Disease Synergy - Causes
- Synergy/Specific Diet Items
- Disease Mechanism & Classification
- Class
- CLASS/Pediatric disorders (ex)
- CLASS/Urologic (category)
- Pathophysiology
- Pathophysiology/Gene locus 13q14
- Pathophysiology/Gene locus 17q21.3-q22
- Pathophysiology/Gene locus 7q21
- Pathophysiology/Gene locus 9q34
- Pathophysiology/Gene locus Chromosome 13
- Pathophysiology/Gene Locus Identified/OMIM database
- Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
- Pathophysiology/Oncogene MET/Locus 7q
- Pathophysiology/Urea cycle metabolic defect
- Process
- PROCESS/Aminoacid metabolic disorder (ex)
- PROCESS/Enzyme defect/Metabolic disorder (ex)
- PROCESS/Fatty acid Oxidation Disorders (FOD)
- PROCESS/Hereditofamilial (category)
- PROCESS/Metabolic/storage disorder (category)
- Synonyms
- Synonym
- Citrullinuria, Synonym/ASD Metabolic disorder
- Definition
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A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)
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- External Links Related to Citrullinuria
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- NGC (National Guideline Clearinghouse)
- Medscape (eMedicine)
- Harrison's Online (accessmedicine)
- NEJM (The New England Journal of Medicine)
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