Disease Information for Citrullinemia/Argininsuccinicaciduria

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Clinical Manifestations
Signs & Symptoms
Infants Sicken on Feeding
Nausea
Vomiting
Vomiting in infancy
Awkward Uncoordinated Child
Coma/infant or newborn
Intellectual Decline Children
Limb Ataxia
Limb ataxia/clumsiness child
Unconscious/Narcosis status
Typical Clinical Presentation
Presentation/Hyperammonemia infant Resp alkalosis
Clinical Presentation & Variations
Presentation/Metabolic disease silent first week Missed
Presentation/Non diabetic Ketoacidosis Kids infants
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Metabolic disease
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
Filter paper spot/newborn blood test abnormal
Neonatal metabolic screening (mass spec) abnormal
Newborn screening tests abnormal (extended)
Abnormal Lab Findings - Increased
Amino acids serum (Lab)
Ammonia blood (Lab)
Arginosuccinic acid (Lab)
Citrulline, serum (Lab)
URINE Ammonia
Diagnostic Test Results
Other Tests & Procedures
Amniocentesis/Abnormality
Amniocentesis/Prenatal enzyme assay/abnormal
Amniocentesis/Restrict fragment length polymorph (RFLP)
Pathology
BX/Liver biopsy Enzyme assay abnormal
BX/Liver biopsy/Abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Coma in Children
Coma/Unconscious
Developmental neurologic degeneration/child
Hyperammonemia
Urea cycle/metabolic disorder
Disease Synergy - Causes
Synergy/Diet excess beef/lamb/dairy products
Synergy/High Protein diet/intake
Synergy/Specific Diet Items
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Hair involvement/disorder (ex)
CLASS/Renal/kidney involvement/disorder (ex)
CLASS/Urologic (category)
Pathophysiology
Pathophysiology/Gene locus 9q34
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Urea cycle metabolic defect
Pathophysiology/Hereditary disease renal effect
Pathophysiology/Cytosol Enzyme Lesion
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
Argininosuccinase deficiency, Argininosuccinate synthase def, ARGININOSUCCINATE SYNTHASE DEFIC DIS, Argininosuccinate synthase deficiency, Argininosuccinate Synthase Deficiency Disease, ARGININOSUCCINATE SYNTHETASE DEFICIENCY, ARGININOSUCCINIC ACID SYNTHASE DEFIC DIS, Argininosuccinic Acid Synthase Deficiency Disease, ARGININOSUCCINIC ACID SYNTHETASE DEFIC DIS, Argininosuccinic Acid Synthetase Deficiency Disease, Arginosuccinate synthetase deficiency, ASA synthase deficiency, ASAS deficiency, ASS DEFICIENCY, Citrullinaemia, Citrullinemia, Citrullinemia (disorder), CITRULLINEMIA, CLASSIC, CITRULLINEMIA, TYPE I, Citrullinemias, Citrullinuria, Citrullinuria (finding), Citrullinurias, CTLN1, DEFIC DIS ARGININOSUCCINATE SYNTHASE, DEFIC DIS ARGININOSUCCINIC ACID SYNTHASE, Deficiency Disease, Argininosuccinate Synthase, Deficiency Disease, Argininosuccinic Acid Synthase, Deficiency of argininosuccinate synthase, Deficiency of argininosuccinate synthase (disorder), Deficiency of citrulline aspartate ligase, Synonym/ALD Enzyme/Metabolic disorder, Synonym/Argininesuccininic aciduria, Synonym/ASA Synthetase deficiency (citrullinemia), Synonym/ASD Metabolic disorder
Treatment
Drug Therapy - Indication
RX/Arginine supplement
Other Treatments
TX/Diet supplement/amino acids
Definition

A group of diseases related to a deficiency of the single 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------------------------------------ Argininosuccinic Aciduria; ASA Deficiency; ASL Deficiency; Arginino Succinase Deficiency ; Argininosuccinate Lyase Deficiency; Discussion: Argininosuccinic aciduria is a rare inherited disorder characterized by deficiency or lack of the enzyme argininosuccinate lyase (ASL); Argininosuccinate lyase is one of six enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle; The lack of this enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood; Affected infants may experience vomiting, refusal to eat, progressive lethargy, and coma; Argininosuccinic aciduria 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 [NORD 2005]

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NEJM (The New England Journal of Medicine)
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