@prefix nalt: <https://lod.nal.usda.gov/nalt/> .
@prefix skos: <http://www.w3.org/2004/02/skos/core#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix dc: <http://purl.org/dc/terms/> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
@prefix ns0: <https://lod.nal.usda.gov/naltv#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .

nalt:1396
  skos:prefLabel "3-metil-2-oxobutanoato deshidrogenasa (lipoamida)"@es, "3-methyl-2-oxobutanoate dehydrogenase (lipoamide)"@en ;
  a <https://lod.nal.usda.gov/naltv#Chemical>, skos:Concept ;
  skos:related nalt:47275 .

nalt:2755
  skos:prefLabel "enfermedades metabólicas heredadas"@es, "inherited metabolic diseases"@en ;
  a <https://lod.nal.usda.gov/naltv#Topic>, skos:Concept ;
  skos:narrower nalt:47275 .

<https://lod.nal.usda.gov/naltv#Topic>
  rdfs:label "Topic"@en ;
  a owl:Class .

nalt:47275
  skos:related nalt:1396 ;
  dc:modified "2016-08-23"^^xsd:date ;
  skos:definition nalt:47275_def ;
  dc:created "2006-01-19"^^xsd:date ;
  skos:hiddenLabel "branched chain ketoaciduria"@en, "maple syrup urine disorder"@en, "maple-syrup-urine-disease"@en, "maple syrup urine diseases"@en ;
  skos:altLabel "classic maple syrup urine disease"@en, "intermediate maple syrup urine disease"@en, "branched-chain ketoaciduria"@en ;
  a skos:Concept, <https://lod.nal.usda.gov/naltv#Topic> ;
  skos:broader nalt:2755 ;
  skos:prefLabel "enfermedad de la orina de jarabe de arce"@es, "maple syrup urine disease"@en ;
  ns0:marc001 "22466" ;
  skos:inScheme <https://lod.nal.usda.gov/nalt> .

<https://lod.nal.usda.gov/nalt>
  rdfs:label "NALT Full"@en ;
  a skos:ConceptScheme .

nalt:47275_def
  rdf:value "Trastorno hereditario autosómico recesivo con múltiples formas de expresión fenotípica, causado por un defecto en la descarboxilación oxidativa de los aminoácidos de cadena ramificada (aminoácidos, cadena ramificada). Estos metabolitos se acumulan en los fluidos corporales y producen un olor a jarabe de arce. La enfermedad se divide en los subtipos: clásica, intermedia, intermitente y sensible a la tiamina. La forma clásica se presenta en la primera semana de vida, con cetoacidosis, hipoglicemia, emesis, convulsiones neonatales e hipertonía, mientras que las formas intermedia e intermitente se manifiestan en la niñez o posteriormente, con episodios agudos de ataxia y vómito."@es, "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."@en ;
  dc:source "Medical Subject Headings 2016" ;
  a ns0:Definition .