maple syrup urine disease

Preferred Label : maple syrup urine disease;

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 synonym : ketoacidurias, branched-chain; msud (maple syrup urine disease); branched-chain ketoacidurias; ketoaciduria, branched-chain; branched-chain ketoaciduria; branched chain ketoaciduria; keto acid decarboxylase deficiency; Branched-Chain alpha-Keto acid dehydrogenase deficiency; branched chain alpha keto acid dehydrogenase deficiency; BCKD deficiency;

MeSH hyponym : intermediate maple syrup urine disease; classic maple syrup urine disease; intermittent maple syrup urine disease; maple syrup urine disease, thiamine responsive; Maple Syrup Urine Disease, Intermediate; Thiamine Responsive Maple Syrup Urine Disease; Maple Syrup Urine Disease, Thiamine-Responsive; Maple Syrup Urine Disease, Classic; Maple Syrup Urine Disease, Classical; Classical Maple Syrup Urine Disease; Maple Syrup Urine Disease, Intermittent;

Wikipedia link : https://en.wikipedia.org/wiki/Maple syrup urine disease;

Details

Origin ID

D008375;

UMLS CUI

C0024776;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Classic maple syrup urine disease [ORDO Disease]
- Classical maple syrup urine disease (disorder) [SNOMED CT concept]
- Classical maple-syrup-urine disease [ICD-11 More detail]
- Maple syrup urine (finding) [Inactive SNOMED CT concept]
- Maple syrup urine disease [OMIM phenotypic series]
- Other disorders of branched-chain amino-acid metabolism [ICD-10 Sub-category (who)]
- branched chain keto acid dehydrogenase E1 subunit alpha [ORDO Gene]
- branched chain keto acid dehydrogenase E1 subunit alpha [HGNC gene]
- branched chain keto acid dehydrogenase E1 subunit beta [ORDO Gene]
- branched chain keto acid dehydrogenase E1 subunit beta [HGNC gene]
- classical maple syrup urine disease [SNOMED Notion]
- genetic brain disorders [MedlinePlus Topic]
- maple syrup urine [SNOMED Notion]
- maple syrup urine [TUV Concept]
- maple syrup urine [TUV Term]
Currated CISMeF NLP mapping
- Leucinosis [PASCAL descriptor]
- Leucinosis [ICD-11 More detail]
- Maple Syrup Urine Disease [NCIt concept]
- Maple syrup disease [MedDRA Preferred Term]
- Maple syrup urine disease [LOINC component]
- Maple syrup urine disease [OMIM Phenotype]
- Maple syrup urine disease [ACR pathology]
- Maple syrup urine disease [ORDO Disease]
- Maple syrup urine disease [MedDRA LLT]
- Maple syrup urine disease (disorder) [SNOMED CT concept]
- Maple-syrup-urine disease [ICD-10 Sub-category]
- Maple-syrup-urine disease [ICD-11 Sub-sub category]
- Maple-syrup-urine disease [ICD-10 Sub-category (who)]
- hyperleucinemia [SNOMED Notion]
- leucinosis [Artificial nutrition thesaurus concept]
- maple syrup urine disease [DO Concept]
- maple syrup urine disease, nos [SNOMED Notion]
- maple syrup urine disorder [Disease (Nov.)]
DO Cross reference
- maple syrup urine disease [DO Concept]
Has phenotype(s) (HPO)
- Feeding difficulties [HPO term]
Manual NTBT mappings (CISMeF)
- Disorder of branched-chain amino acid metabolism [ORDO Disease]
MedlinePlus topic(s)
- genetic brain disorders [MedlinePlus Topic]
ORDO relation(s)
- Maple syrup urine disease [ORDO Disease]
Record concept(s)
- classic maple syrup urine disease [MeSH concept]
- intermediate maple syrup urine disease [MeSH concept]
- intermittent maple syrup urine disease [MeSH concept]
- maple syrup urine disease [MeSH concept]
- maple syrup urine disease, thiamine responsive [MeSH concept]
Related MeSH Supplementary Concept(s)
- lactic acidosis, congenital infantile, due to LAD deficiency [MeSH Supplementary Concept]
- maple syrup urine disease, E3 deficient, with lactic acidosis [MeSH Supplementary Concept]
- maple syrup urine disease, type 1A [MeSH Supplementary Concept]
- maple syrup urine disease, type 1B [MeSH Supplementary Concept]
- maple syrup urine disease, type 2 [MeSH Supplementary Concept]
See also
- 3-Methyl-2-Oxobutanoate dehydrogenase (Lipoamide) [MeSH Descriptor]
- urine [MeSH Descriptor]
See also inter- (CISMeF)
- Hyperleucinemia (disorder) [SNOMED CT concept]
- hyperleucinemia [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Maple Syrup Urine Disease [NCIt concept]
- Maple syrup disease [MedDRA Preferred Term]
- Maple syrup urine disease [ORDO Disease]
- Maple syrup urine disease [OMIM Phenotype]
- Maple syrup urine disease [MedDRA LLT]
- Maple syrup urine disease [ACR pathology]
- Maple syrup urine disease [LOINC component]
- Maple syrup urine disease (disorder) [SNOMED CT concept]
- Maple-syrup-urine disease [ICD-10 Sub-category]
- Maple-syrup-urine disease [ICD-10 Sub-category (who)]
- Maple-syrup-urine disease [ICD-11 Sub-sub category]
- maple syrup urine disease [DO Concept]
- maple syrup urine disease, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Classic maple syrup urine disease [ORDO Disease]
- Intermediate maple syrup urine disease [ORDO Disease]
- Intermediate maple syrup urine disease (disorder) [SNOMED CT concept]
- Intermediate maple-syrup-urine disease [ICD-11 More detail]
- Intermittent maple syrup urine disease [ORDO Disease]
- Intermittent maple syrup urine disease (disorder) [SNOMED CT concept]
- Intermittent maple-syrup-urine disease [ICD-11 More detail]
- Thiamin-responsive maple syrup urine disease (disorder) [SNOMED CT concept]
- Thiamine-responsive maple syrup urine disease [ORDO Disease]
- intermittent maple syrup urine disease [SNOMED Notion]
- thiamin-responsive maple syrup urine disease [SNOMED Notion]

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