MeSH Browser

MeSH Heading: Hyperargininemia
Tree Number(s): C10.228.140.163.100.937.500; C16.320.565.100.940.500; C16.320.565.189.937.500; C18.452.132.100.937.437; C18.452.648.100.940.437; C18.452.648.189.937.437
Unique ID: D020162
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D020162
Scope Note: 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)
Entry Term(s): ARG1 Deficiency; Arginase Deficiency; Arginase Deficiency Disease; Argininemia; Deficiency Disease, Arginase
Previous Indexing: Amino Acid Metabolism, Inborn Errors (1966-1999)
See Also: Arginase
Public MeSH Note: 2000
History Note: 2000
Date Established: 2000/01/01
Date of Entry: 1999/11/03
Revision Date: 2013/07/08

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Concept UI: M0328331
Scope Note: 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)
Terms: Hyperargininemia Preferred Term
Term UI T358331
Date10/12/1999
LexicalTag NON
ThesaurusID; Deficiency Disease, Arginase
Term UI T368489
Date10/12/1999
LexicalTag NON
ThesaurusID NLM (2000); Arginase Deficiency Disease
Term UI T368487
Date10/12/1999
LexicalTag NON
ThesaurusID; Argininemia
Term UI T368488
Date10/12/1999
LexicalTag NON
ThesaurusID; ARG1 Deficiency
Term UI T734485
Date02/04/2009
LexicalTag ABX
ThesaurusID; Arginase Deficiency
Term UI T734486
Date02/04/2009
LexicalTag NON
ThesaurusID

Hyperargininemia MeSH Descriptor Data 2024