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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Preferred Name | Maple syrup urine disease | |
| Synonyms |
BCKD deficiency Branched-chain 2-ketoacid dehydrogenase deficiency BCKDH deficiency Branched-chain ketoaciduria MSUD |
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| Definitions |
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. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_511 |
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| alternative_term |
BCKD deficiency Branched-chain 2-ketoacid dehydrogenase deficiency BCKDH deficiency Branched-chain ketoaciduria MSUD
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| 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.
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| definition_citation |
Orphanet
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=511 |
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| has_age_of_onset |
Childhood Infancy Neonatal
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| has_inheritance |
Autosomal recessive
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| hasDbXref |
UMLS:C0024776 MeSH:D008375 ICD-10:E71.0 OMIM:248600 OMIM:620698 OMIM:620699 MedDRA:10026817 ICD-11:5C50.D0 OMIM:615135
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| label |
Maple syrup urine disease
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| notation |
ORPHA:511
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_511
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| prefLabel |
Maple syrup urine disease
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| present_in |
China AND has_point_prevalence_average_value : 0.396 AND has_point_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 Worldwide AND has_birth_prevalence_average_value : 0.67 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 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 0.86 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.78 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 Tunisia AND has_birth_prevalence_average_value : 7.3 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 Australia AND has_birth_prevalence_average_value : 0.6 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 Japan AND has_birth_prevalence_average_value : 0.19 AND has_birth_prevalence_range : 1-9 / 1 000 000
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