Management Guidelines
Recently published guidelines for the diagnosis and management of phenylalanine hydroxylase (PAH) deficiency in the United States (US) supplement the published guidelines of . European guidelines have also been published . Most other international guidelines largely align with the US recommendations with some variation in the acceptable blood Phe concentrations, especially in older individuals (i.e., adults).
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with PAH deficiency, the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended. Newborns with an out-of-range newborn screening (NBS) result. Refer to a metabolic specialty center that includes a metabolic physician/ biochemical geneticist and metabolic dietitian to establish the diagnosis and begin an age-appropriate low-phenylalanine (Phe) diet as soon as elevated blood Phe concentrations have been documented . If a referral is not immediately practical, see for treatment guidelines. Ideally the low-Phe diet should be initiated within the first week of life, with a goal of having blood Phe concentration in the treated range within the first two weeks of life .
Source: GeneReviews — "Phenylalanine Hydroxylase Deficiency"
