loading...| Preferred Name |
Hyperlysinemia |
|
| Synonyms |
Lysine alpha-ketoglutarate reductase deficiency |
|
| Definitions |
A rare autosomal recessive disorder of lysine metabolism characterized by elevated levels of lysine in the cerebrospinal fluid and blood. Hyperlysinemia type I has been associated with a highly variable phenotype including seizures, hypotonia, and mild psychomotor delay, although isolated hyperlysinemia is probably a benign condition. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_2203 |
|
| alternative_term |
Lysine alpha-ketoglutarate reductase deficiency Hyperlysinemia type I |
|
| definition |
A rare autosomal recessive disorder of lysine metabolism characterized by elevated levels of lysine in the cerebrospinal fluid and blood. Hyperlysinemia type I has been associated with a highly variable phenotype including seizures, hypotonia, and mild psychomotor delay, although isolated hyperlysinemia is probably a benign condition. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2203 |
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| has_age_of_onset |
All ages |
|
| has_inheritance |
Autosomal recessive |
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| hasDbXref |
ICD-10:E72.3 ICD-11:5C50.4 UMLS:C0268553 MeSH:D020167 OMIM:238710 OMIM:238700 MedDRA:10081311 |
|
| label |
Hyperlysinemia |
|
| notation |
ORPHA:2203 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_2203 |
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| prefLabel |
Hyperlysinemia |
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| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
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| treeView | ||
| subClassOf |