MeSH Browser

MeSH Supplementary: Histidinemia
Unique ID: C538320
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538320
Entry Term(s): Deficiency in Histidase; HAL Deficiency; Histidase deficiency; Histidine ammonia-lyase deficiency; Hyperhistidinemia
Registry Number: 0
Heading Mapped to: *Amino Acid Metabolism, Inborn Errors; Histidine Ammonia-Lyase / *deficiency
Frequency: 16
Note: A hereditary metabolic disorder characterized by increased levels of HISTIDINE in the blood, urine, and cerebrospinal fluid. It is generally benign, but some individuals may be at increased risk for intellectual disability. It is caused by mutations in the histidine ammonia-lyase (HAL) gene. OMIM: 235800.
Date of Entry: 2010/08/25
Revision Date: 2019/06/24

Concept UI: M0532781
Registry Number: 0
Terms: Histidinemia Preferred Term
Term UI T745431
Date02/24/2009
LexicalTag NON
ThesaurusID; Deficiency in Histidase
Term UI T845812
Date06/18/2013
LexicalTag NON
ThesaurusID ORD (2010); HAL Deficiency
Term UI T824887
Date06/25/2012
LexicalTag NON
ThesaurusID; Hyperhistidinemia
Term UI T841667
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Histidase deficiency
Term UI T745432
Date02/24/2009
LexicalTag NON
ThesaurusID; Histidine ammonia-lyase deficiency
Term UI T745435
Date02/24/2009
LexicalTag NON
ThesaurusID

Histidinemia MeSH Supplementary Concept Data 2024