loading...| Preferred Name |
Maple syrup urine disease |
| ID |
http://www.orpha.net/ORDO/Orphanet_511 |
| alternative_term |
Branched-chain 2-ketoacid dehydrogenase deficiency BCKD deficiency MSUD BCKDH deficiency Branched-chain ketoaciduria |
| definition |
A rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine-responsive MSUD. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=511 |
| has_age_of_onset |
Childhood Neonatal Infancy |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
MedDRA:10026817 MeSH:D008375 ICD-10:E71.0 OMIM:248600 UMLS:C0024776 OMIM:615135 ICD-11:5C50.D0 |
| label |
Maple syrup urine disease |
| notation |
ORPHA:511 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_511 |
| prefLabel |
Maple syrup urine disease |
| present_in |
Worldwide AND has_birth_prevalence_average_value : 0.67 AND has_birth_prevalence_range : 1-9 / 1 000 000 Tunisia AND has_birth_prevalence_average_value : 7.3 AND has_birth_prevalence_range : 1-9 / 100 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 0.86 AND has_birth_prevalence_range : 1-9 / 1 000 000 Israel AND has_birth_prevalence_average_value : 4.8 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_birth_prevalence_average_value : 10.2 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 0.78 AND has_birth_prevalence_range : 1-9 / 1 000 000 Australia AND has_birth_prevalence_average_value : 0.6 AND has_birth_prevalence_range : 1-9 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 1.15 AND has_birth_prevalence_range : 1-9 / 100 000 China AND has_point_prevalence_average_value : 0.396 AND has_point_prevalence_range : 1-9 / 1 000 000 Japan AND has_birth_prevalence_average_value : 0.19 AND has_birth_prevalence_range : 1-9 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 0.34 AND has_birth_prevalence_range : 1-9 / 1 000 000 Italy AND has_birth_prevalence_average_value : 0.79 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 |
| treeView | |
| subClassOf |