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Hyperargininemia with arginase deficiency. 1979

S D Cederbaum, and K N Shaw, and E B Spector, and M A Verity, and P J Snodgrass, and G I Sugarman

UI MeSH Term Description Entries
D008297 Male Males
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000592 Amino Acid Metabolism, Inborn Errors Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life. Amino Acidopathies, Congenital,Amino Acid Metabolism Disorders, Inborn,Amino Acid Metabolism, Inborn Error,Amino Acid Metabolism, Inherited Disorders,Amino Acidopathies, Inborn,Congenital Amino Acidopathies,Inborn Errors, Amino Acid Metabolism,Inherited Errors of Amino Acid Metabolism,Amino Acidopathy, Congenital,Amino Acidopathy, Inborn,Congenital Amino Acidopathy,Inborn Amino Acidopathies,Inborn Amino Acidopathy
D000596 Amino Acids Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. Amino Acid,Acid, Amino,Acids, Amino
D001119 Arginase A ureahydrolase that catalyzes the hydrolysis of arginine or canavanine to yield L-ornithine (ORNITHINE) and urea. Deficiency of this enzyme causes HYPERARGININEMIA. EC 3.5.3.1. Arginase A1,Arginase A4,Hepatic Proliferation Inhibitor,Liver Immunoregulatory Protein,Liver-Derived Inhibitory Protein,Liver-Derived Lymphocyte Proliferation Inhibiting Protein,Immunoregulatory Protein, Liver,Inhibitor, Hepatic Proliferation,Inhibitory Protein, Liver-Derived,Liver Derived Inhibitory Protein,Liver Derived Lymphocyte Proliferation Inhibiting Protein,Proliferation Inhibitor, Hepatic,Protein, Liver Immunoregulatory,Protein, Liver-Derived Inhibitory
D001120 Arginine An essential amino acid that is physiologically active in the L-form. Arginine Hydrochloride,Arginine, L-Isomer,DL-Arginine Acetate, Monohydrate,L-Arginine,Arginine, L Isomer,DL Arginine Acetate, Monohydrate,Hydrochloride, Arginine,L Arginine,L-Isomer Arginine,Monohydrate DL-Arginine Acetate
D020162 Hyperargininemia A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme 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) ARG1 Deficiency,Arginase Deficiency,Arginase Deficiency Disease,Argininemia,Deficiency Disease, Arginase,ARG1 Deficiencies,Arginase Deficiencies,Arginase Deficiency Diseases,Deficiencies, ARG1,Deficiencies, Arginase,Deficiency Diseases, Arginase,Deficiency, ARG1,Deficiency, Arginase,Hyperargininemias

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