Phenylketonuria

{
  "id": "MLC-T-CHM-008762",
  "term": "Phenylketonuria",
  "field": "Chemistry",
  "definition": "An inherited metabolic disorder characterized by the inability to metabolize the amino acid phenylalanine, due to a deficiency in the enzyme phenylalanine hydroxylase. This leads to a buildup of phenylalanine in the body, which can cause severe neurological damage if untreated. It is typically detected through newborn screening programs.",
  "subject": "Chemistry and Human Health",
  "see_also": [
    "autosomal recessive mutation"
  ],
  "references": [
    "PAC, 2016, 88, 713. 'Glossary of terms used in developmental and reproductive toxicology (IUPAC Recommendations 2016)' on page 792 (https://doi.org/10.1515/pac-2015-1202)"
  ],
  "url": "https://mlchart.com/terminology/chemistry/phenylketonuria/"
}