Disease Information for HyperArgininemia

Clinical Manifestations
Signs & Symptoms
Infants Sicken on Feeding
Muscle spasticity
Scissor legs posture/gait
Awkward Uncoordinated Child
Infant Seizures
Intellectual Decline Children
Limb Ataxia
Limb ataxia/clumsiness child
Seizures Newborn
Spastic paralysis/signs
Spasticity/Spastic gait
Clinical Presentation & Variations
Presentation/Movement Disorder Ataxia Dementia Progressive
Presentation/Progressive dementia Child Infant
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Population/Pediatrics population
Family History
Family history/Metabolic disease
Sex & Age Groups
Population/Child-Infant Only
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Enzyme Assay plasma/tissue/fibroblast abnormal
Neonatal metabolic screening (mass spec) abnormal
Newborn screening tests abnormal (extended)
Abnormal Lab Findings - Increased
Orotic Acid Serum (Lab)
Ammonia blood (Lab)
Arginine (Lab)
URINE Ammonia
URINE Orotic Acid
Diagnostic Test Results
Other Tests & Procedures
Amniocentesis/Prenatal enzyme assay/abnormal
Amniocentesis/Restrict fragment length polymorph (RFLP)
BX/Liver biopsy Enzyme assay abnormal
BX/Liver biopsy/Abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Cerebral spastic diplegia
Mental retardation
Urea cycle/metabolic disorder
Disease Synergy - Causes
Synergy/High Protein diet/intake
Synergy/Specific Diet Items
Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Urea cycle metabolic defect
Pathophysiology/Diffuse/progressive cerebral disease
Pathophysiology/Cytosol Enzyme Lesion
PROCESS/Aminoacid metabolic disorder (ex)
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
ARG1 DEFICIENCY, ARGI deficiency, ARGINASE DEFIC DIS, Arginase deficiency, Arginase deficiency (disorder), Arginase Deficiency Disease, Arginase Deficiency Diseases, Argininaemia, Argininemia, DEFIC DIS ARGINASE, Deficiency Disease Arginase, Deficiency Diseases Arginase, Deficiency of arginase, Deficiency of arginase (disorder), Deficiency of arginine amidinase, Deficiency of canavanase, Hyperargininaemia, Hyperargininemia, Hyperargininemias, Synonym/AG Metabolic disorder, Synonym/Arginase Deficiency
Other Treatments
TX/Diet restriction treatment.
TX/Diet supplement/amino acids
TX/Low protein diet

A rare autosomal recessive disorder of the urea cycle; It is caused by a deficiency of the hepatic enzyme type I ARGINASE; Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia may occur; Disease onset is usually in infancy or early childhood; Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis; (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)---------------------------.

Arginase Deficiency; ARG Deficiency; Argininemia

Hyperargininemia ; Discussion: Arginase deficiency is a rare inherited disorder characterized by complete or partial lack of the enzyme arginase; Arginase 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 the arginase enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood and arginine (hyperarginemia) in the blood and cerebrospinal fluid; Affected infants may exhibit mental retardation, seizures, and spasticity; Arginase deficiency 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]-------------


External Links Related to HyperArgininemia
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)