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.

Synonyms:

BCKDH deficiency

Branched-chain ketoaciduria

MSUD

BCKD deficiency

Branched-chain 2-ketoacid dehydrogenase deficiency

This is just here as a test because I lose it

Term information

database cross reference
expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=511
hasDbXref
  • ICD-10:E71.0
  • ICD-11:5C50.D0
  • OMIM:615135
  • UMLS:C0268576
  • MeSH:D008375
  • OMIM:248600
  • UMLS:C0024776
  • MedDRA:10026817
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409946
  • http://www.orpha.net/ORDO/Orphanet_409944
  • http://www.orpha.net/ORDO/Orphanet_409945
has birth prevalence average value
  • 1.15
  • 0.19
  • 0.34
  • 0.6
  • 0.67
  • 0.78
  • 0.79
  • 0.86
  • 7.3
has birth prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409977
  • http://www.orpha.net/ORDO/Orphanet_409976
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409930
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409976
notation
  • ORPHA:511
part of
  • http://www.orpha.net/ORDO/Orphanet_79197
present in
  • http://www.orpha.net/ORDO/Orphanet_410169
  • http://www.orpha.net/ORDO/Orphanet_410102
  • http://www.orpha.net/ORDO/Orphanet_409991
  • http://www.orpha.net/ORDO/Orphanet_410216
  • http://www.orpha.net/ORDO/Orphanet_410207
  • http://www.orpha.net/ORDO/Orphanet_410050
  • http://www.orpha.net/ORDO/Orphanet_410006
  • http://www.orpha.net/ORDO/Orphanet_410225
  • http://www.orpha.net/ORDO/Orphanet_410100
  • http://www.orpha.net/ORDO/Orphanet_409984

Term relations

Subclass of: