Histidinemia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HAL DEFICIENCY HISTIDINE AMMONIA-LYASE DEFICIENCY HIS DEFICIENCY histidase deficiency Histidinuria |
| Number of Symptoms | 13 |
| OrphanetNr: | 2157 |
| OMIM Id: |
235800
|
| ICD-10: |
E70.8 |
| UMLs: |
C0220992 |
| MeSH: |
C538320 |
| MedDRA: |
|
| Snomed: |
124628005 410058007 |
Prevalence, inheritance and age of onset:
| Prevalence: | > 1 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of histidine metabolism
-Rare genetic disease |
Comment:
| The clinical picture of histidinemia varies from complete normality to severe retardation, with many patients being asymptomatic. No correlation has been found between clinical and biochemical data (PMID:8463510). |
Symptom Information:
|
|
(HPO:0002927) | Histidinuria | very frequent [IBIS] | 8669938 | IBIS | 3 / 7739 | |
|
|
(HPO:0000708) | Behavioral abnormality | 212 / 7739 | ||||
|
|
(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
|
|
(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
|
|
(HPO:0002167) | Neurological speech impairment | 308 / 7739 | ||||
|
|
(HPO:0001270) | Motor delay | 322 / 7739 | ||||
|
|
(HPO:0010904) | Abnormality of histidine metabolism | very frequent [IBIS] | 8669938 | IBIS | 1 / 7739 | |
|
|
(OMIM) | Increased histidine in blood, urine, and CSF | 1 / 7739 | ||||
|
|
(HPO:0010906) | Hyperhistidinemia | very frequent [IBIS] | 8669938 | IBIS | 1 / 7739 | |
|
|
(OMIM) | Decreased histidase activity | 1 / 7739 | ||||
|
|
(OMIM) | Decreased urocanic acid in blood, urine, and skin cells | 1 / 7739 | ||||
|
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(OMIM) | Decreased urocanic acid in stratum corneum | 1 / 7739 | ||||
|
|
(OMIM) | Decreased or absent histidase activity | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Histidinemia is an autosomal recessive metabolic disorder characterized by increased levels of histidine in blood, urine, and cerebrospinal fluid, and decreased levels of the metabolite urocanic acid in blood, urine, and skin cells. Although histidinemia was originally associated ... |
| Clinical Description OMIM |
Ghadimi et al. (1961) reported 2 patients with histidinemia and suggested that it resulted from a 'familial disturbance of histidine metabolism.' Auerbach et al. (1962) were unable to detect the histidase metabolites urocanic acid or FIGLU (formiminoglutamic acid) ... |
| Molecular genetics OMIM | Using mutation detection enhancement gel analysis to screen 50 Japanese patients with histidinemia, Kawai et al. (2005) identified 4 missense mutations in the HAL gene (609457.0001-609457.0004). The authors also identified 2 exonic and 2 intronic polymorphisms. |
| Population genetics OMIM |
Levy et al. (1974) reported a frequency of histidinemia of 1 in 20,000 births. Alm et al. (1981) estimated the frequency of histidinemia in Sweden to be 1 in 37,000, on the basis of neonatal screening. ... |