Disease Information for Citrullinuria

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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

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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