Supplemental Phenylketonuria Therapies May Provide Short-Term Benefit
Lifelong dietary control is essential for effective management of phenylketonuria (PKU), an AHRQ research review confirms. PKU is a rare metabolic disorder which, if uncontrolled, leads to a toxic buildup of the amino acid phenylalanine (Phe) in the blood, resulting in intellectual disability, delayed speech, seizures, and behavioral abnormalities. A review of two supplemental therapies, sapropterin dihydrochloride (BH4) and the nutritional supplement large neutral amino acids (LNAAs), found that BH4 may be effective in reducing levels of Phe in certain individuals in the short term. Its long term impact is unknown, however. Evidence on the effectiveness of LNAAs is still lacking. These findings and future research needs are summarized in the review, Adjuvant Treatment for Phenlyketonuria (PKU).