loading...| Preferred Name |
Maple Syrup Urine Disease [Disease/Finding] |
|
| Synonyms |
Keto Acid Decarboxylase Deficiency Branched-Chain Ketoaciduria Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency Maple Syrup Urine Disease MSUD (Maple Syrup Urine Disease) BCKD Deficiency |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001942 |
|
| altLabel |
Keto Acid Decarboxylase Deficiency Branched-Chain Ketoaciduria Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency Maple Syrup Urine Disease MSUD (Maple Syrup Urine Disease) BCKD Deficiency |
|
| cui |
C0024776 |
|
| MESH DEFINITION |
An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936) |
|
| MESH DUI |
D008375 |
|
| MeSH name |
Maple Syrup Urine Disease |
|
| MESH UI |
M0013019 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001942 |
|
| NUI |
N0000001942 |
|
| prefLabel |
Maple Syrup Urine Disease [Disease/Finding] |
|
| SNOMED CID |
27718001 |
|
| tui |
T047 |
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| subClassOf |