Extracorporeal enzyme reactors for depletion of phenylalanine in phenylketonuria

Ann Intern Med. 1987 Apr;106(4):531-7. doi: 10.7326/0003-4819-106-4-531.

Abstract

Multitubular enzyme reactors with immobilized enzymes were developed to achieve depletion of circulating substrate by extracorporeal means. To act as prototypes, reactors were prepared with immobilized L-phenylalanine ammonia-lyase, an enzyme that metabolizes phenylalanine to trans-cinnamic acid and ammonia without the need for a coenzyme. We report the first application of phenylalanine ammonia-lyase reactors in an extracorporeal circulation system in a patient with phenylketonuria. A phenylalanine level of 1.82 mmol/L (for the last 6 years) decreased to 1.24 mmol/L after 5.5. hours of treatment, without the enzyme entering the circulation. Total phenylalanine depletion from blood and tissue stores was estimated at 1800 mg. The hemodialysis-like procedure proved to be without side effects, specific for phenylalanine, and suitable in the management of pregnant women with phenylketonuria and late-onset hyperphenylalaninemia. The extracorporeal use of enzyme reactors for temporary enzyme replacement represents a new, safe, and effective therapeutic modality.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Ammonia-Lyases*
  • Enzymes, Immobilized*
  • Humans
  • Male
  • Phenylalanine / blood*
  • Phenylalanine Ammonia-Lyase*
  • Phenylketonurias / blood
  • Phenylketonurias / diet therapy
  • Phenylketonurias / therapy*
  • Renal Dialysis*

Substances

  • Enzymes, Immobilized
  • Phenylalanine
  • Ammonia-Lyases
  • Phenylalanine Ammonia-Lyase