Current PKU Management

“Diet for life” is the current standard

Lifelong commitment to dietary Phe restriction along with medical protein supplementation is currently the standard approach to managing PKU. In the US, this standard was established in a 2000 consensus statement composed by an NIH-sponsored panel of PKU research experts: “Metabolic control is necessary across the lifespan of individuals with PKU.”¹² Specifically, the NIH Consensus recommends blood Phe levels of 2–6 mg/dL (120–360 µmol/L) for newborns to age 12. In light of findings that Phe levels are related to cognitive function in adolescents and adults, it is recommended that Phe levels be maintained between 2–15 mg/dL (120–900 µmol/L) after 12 years of age.¹² Considering the fact that brain development is ongoing during adolescence, the NIH strongly encourages Phe levels of 2–10 mg/dL (120–600 µmol/L) for PKU patients during this age period.¹² Forty years of PKU research and understanding have generated enough evidence that “diet for life” is now the accepted management protocol in virtually all countries that screen for PKU.

A combination of these items has been the basis for PKU treatment for years:

• Phe-free formulas
• Phe-free protein replacement bars
• Low-Phe natural foods
• Low-Phe medical foods

Biotechnology is exploring a pharmaceutical therapy that would reduce blood Phe and potentially allow a person with PKU to eat more foods from a normal diet while keeping blood Phe levels low. New research continues in this area.

Patients face a steep challenge

The restricted diet currently represents the only standard form of management for PKU. Given the absolute necessity of strict adherence to “diet for life,” it is important to understand the barriers patients face in fulfilling their management goals. Between the difficulties of compliance, the nutritional deficiencies associated with the diet, and the risk of cognitive and psychological issues, PKU can indeed be an uphill battle for patients.

Management goals: critical, yet unmet

Research indicates that there are short-term and long-term effects of high Phe levels in adult patients. Despite the importance of maintaining a healthy level of Phe, many patients miss their management goals.