loading...| Preferred Name | Intermittent maple syrup urine disease | |
| Synonyms |
Intermittent BCKD deficiency Intermittent MSUD Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency |
|
| Definitions |
Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD (see this term) where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_268173 |
|
| alternative_term |
Intermittent BCKD deficiency Intermittent MSUD Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency |
|
| definition |
Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD (see this term) where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268173 |
|
| has_age_of_onset |
Childhood Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
ICD-10:E71.0 UMLS:C0268569 OMIM:248600 ICD-11:5C50.D0 |
|
| label |
Intermittent maple syrup urine disease |
|
| notation |
ORPHA:268173 Clinical subtype |
|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_268173 |
|
| prefLabel |
Intermittent maple syrup urine disease |
|
| present_in |
Europe AND has_point_prevalence_range : Unknown Worldwide AND has_birth_prevalence_range : Unknown |
|
| treeView | ||
| subClassOf |