Maple syrup urine disease

{
  "id": "MLC-T-AGR-003920",
  "term": "Maple syrup urine disease",
  "field": "Agriculture and food",
  "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.",
  "synonyms": [
    "branched-chain ketoaciduria",
    "classic maple syrup urine disease",
    "intermediate maple syrup urine disease"
  ],
  "subject": "Animals, Livestock, One Health",
  "see_also": [
    "inherited metabolic diseases",
    "3-methyl-2-oxobutanoate dehydrogenase (lipoamide)"
  ],
  "references": [
    "Medical Subject Headings 2016",
    "NAL Agricultural Thesaurus and Glossary"
  ],
  "translations": {
    "es": "enfermedad de la orina de jarabe de arce"
  },
  "url": "https://mlchart.com/terminology/agriculture/maple-syrup-urine-disease/"
}