loading...| Preferred Name |
Saccharopinuria |
|
| Synonyms |
Hyperlysinemia type II |
|
| Definitions |
A rare autosomal recessive disorder of the lysine catabolism characterized by elevated levels of lysine in the cerebrospinal fluid and blood with variable degrees of saccharopinuria. Some patients present with neurological symptoms such as seizures, spastic diplegia, mild psychomotor delay, intellectual deficit, and behavioral difficulties. However, current findings suggest no causal association between isolated hyperlysinemia and neurological symptoms. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_3124 |
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| alternative_term |
Hyperlysinemia type II Saccharopine dehydrogenase deficiency |
|
| definition |
A rare autosomal recessive disorder of the lysine catabolism characterized by elevated levels of lysine in the cerebrospinal fluid and blood with variable degrees of saccharopinuria. Some patients present with neurological symptoms such as seizures, spastic diplegia, mild psychomotor delay, intellectual deficit, and behavioral difficulties. However, current findings suggest no causal association between isolated hyperlysinemia and neurological symptoms. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3124 |
|
| has_age_of_onset |
Infancy Neonatal |
|
| hasDbXref |
ICD-10:E72.3 ICD-11:5C50.4 UMLS:C0268556 OMIM:268700 MeSH:C537218 |
|
| label |
Saccharopinuria |
|
| notation |
ORPHA:3124 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_3124 |
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| prefLabel |
Saccharopinuria |
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| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
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| treeView | ||
| subClassOf |