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loading...| Preferred Name |
Hyperlysinemia |
| ID |
http://www.orpha.net/ORDO/Orphanet_2203 |
| alternative_term |
Hyperlysinemia type I Lysine alpha-ketoglutarate reductase deficiency |
| definition |
Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2203 |
| has_age_of_onset |
All ages |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
OMIM:238710 ICD-10:E72.3 OMIM:238700 UMLS:C0268553 ICD-11:5C50.4 MeSH:D020167 |
| label |
Hyperlysinemia |
| notation |
ORPHA:2203 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_2203 |
| prefLabel |
Hyperlysinemia |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
| treeView | |
| subClassOf |
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