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bn:00012745n
Noun Concept
Categories: Autosomal recessive disorders, All Wikipedia articles written in American English, Congenital disorders of urinary system, Rare diseases, Amino acid metabolism disorders
EN
maple syrup urine disease  branched chain ketoaciduria  Maple syrup urine syndrome  Branched-chain ketoaciduria  dihydrolipoamide dehydrogenase deficiency
EN
An inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood WordNet 3.0
Definitions
Relations
Sources
EN
An inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood WordNet 3.0 & Open English WordNet
Maple syrup urine disease is an autosomal recessive metabolic disorder affecting branched-chain amino acids. Wikipedia
Human disease Wikidata
Branched-chain ketoaciduria, an autosomal recessive metabolic disorder affecting branched-chain amino acids and causing the urine to have a distinctive sweet odour. Wiktionary
IS A
ketonuria
genetic disease
rare disease
organic acidemia
GENETIC ASSOCIATION
BCKDHA
DBT
BCKDHB
PPM1K
dihydrolipoamide dehydrogenase
HAS PHENOTYPE
hypertonia
seizure
HEALTH SPECIALTY
endocrinology
NAMED AFTER
maple syrup
SYMPTOMS
vomit
WordNet 3.0 & Open English WordNet
EN
maple syrup urine disease, branched chain ketoaciduria
Wikipedia
EN
maple syrup urine disease
Wikidata
EN
maple syrup urine disease
Wiktionary
EN
maple syrup urine disease
Wikipedia Redirections
EN
Branched-chain ketoaciduria, Ketoacidemia, Leucinosis, Maple-syrup-urine disease, Maple sugar urine disease, maple syrup urine, Maple Syrup Urine Disease, Maple Syrup Urine Disorder, Maple syrup urine syndrome, Maple Syrup Urine Syndrome, Maple syrup urinedisease, MSUD
Wikidata Alias
EN
branched chain ketoaciduria, dihydrolipoamide dehydrogenase deficiency, Ketoacidaemia, Maple Syrup Urine Disease; MSUD, MSUD, Maple syrup urine disease

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