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A Treatment Package without Escape Extinction to Address Food Selectivity

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[Phenylketonuria: new treatments].

F Feillet¹, C Bonnemains

¹Centre de référence des maladies héréditaires du métabolisme de Nancy, hôpital d'enfants, CHU de Brabois, 54500 Vandœuvre-les-Nancy, France.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie

|August 6, 2013

Summary

Phenylketonuria (PKU) management relies on a low phenylalanine diet, but compliance wanes. New treatments like sapropterin and others under investigation offer improved therapeutic options for PKU patients.

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Area of Science:

Biochemistry
Metabolic Disorders
Genetics

Context:

Phenylketonuria (PKU) is a rare genetic disorder.
The primary treatment for PKU has been a lifelong low phenylalanine diet for over 50 years.
Dietary compliance, particularly post-adolescence, presents a significant challenge for PKU patients.

Purpose:

To review current and emerging therapeutic strategies for phenylketonuria (PKU).
To highlight the limitations of traditional dietary management and the need for alternative treatments.
To provide an overview of pharmacological and investigational PKU therapies.

Summary:

The low phenylalanine diet is the cornerstone of PKU management but faces compliance issues.
Sapropterin dihydrochloride (Kuvan®) is an approved medication that benefits a subset of PKU patients.
Emerging treatments include glycomacropeptides, large neutral amino acids, phenylalanine ammonia lyase, chaperones, and gene therapy.

Impact:

Advances in PKU treatment offer improved patient outcomes and quality of life.
Expanding therapeutic options addresses the unmet needs of PKU patients with poor dietary adherence.
Future research in PKU therapies holds promise for more effective and personalized management strategies.