Epistemologies of Living With and Treating Rare Metabolic Disorders

Med Anthropol. 2022 Nov-Dec;41(8):866-878. doi: 10.1080/01459740.2022.2141630. Epub 2022 Nov 14.


Treatment of a child diagnosed with an inherited metabolic disease is a demanding task both for the clinicians and for the parents. The metabolic pediatricians and dietitians have to deal with scarce and dispersed clinical knowledge, while the parents must actively participate in its treatment, the bulk of which consists of a stringent diet and managing the risk of metabolic decompensation or intoxication. In this article, I characterize the medical epistemologies of a particular kind of "metabolic living," discussing differences and similarities between the clinical/expert knowledge of metabolic specialists, and the lay knowledge of parents of affected children.

Keywords: anthropology of rare diseases; evidence-based medicine; illness narratives; inborn errors of metabolism; inherited metabolic diseases; nutritionism; parent-patient knowledge.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anthropology, Medical
  • Child
  • Family
  • Humans
  • Metabolic Diseases* / therapy
  • Parents*
  • Rare Diseases