Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG)

Navigating phenylketonuria management to improve it in Latin America: a systematic literature review and applicability analysis

“…Personalized management strategies considering factors like age, growth rate, and blood Phe concentrations, are required for patients at different life stages ( 1 , 2 , 6 , 9–11 ). Regular monitoring of blood Phe concentrations emphasizes the importance of tracking metabolic levels to adjust dietary plans effectively ( 3 ). Patient and family education empowers them to take control and make informed decisions.…”

“…Latin American countries face difficulties keeping pace with the rapid evolution of newborn screening techniques observed in developed nations ( 5 ). A shared objective should be the prompt detection, diagnosis, treatment, and follow-up of newborn screening-related diseases, with tailored treatment guidelines addressing economic, social, and geographic considerations ( 3 , 6 , 7 ). This is especially critical in countries like Ecuador, where public institutions lack specialization in the medical and nutritional treatment required for PKU patients, necessitating knowledge of nutrition by physicians and families.…”

PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice

“…In PAH deficiency, high Phe levels cause brain dysfunction in untreated patients, exhibiting intellectual disability, seizures and behavioural problems, although a broad clinical spectrum exists, from severe, classical PKU to the mildest form, mild hyperphenylalaninemia (HPA) with normal brain development [ 2 ]. Early diagnosis is based on newborn screening and implementation of Phe-restricted dietary treatment, which has been the gold standard for many decades [ 3 ]. This prevents major neurological alterations, although significant challenges remain, associated to poor adherence and suboptimal outcomes.…”

NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders

“…Further, most NBS conditions represent a continuum of disease severity with variability in clinical presentation and outcomes. For example, in phenylketonuria (PKU), plasma phenylalanine (Phe) levels and tolerance to ingested Phe vary widely among affected individuals, with the milder end of the spectrum typically not requiring treatment [5], while other conditions such as the rare Pompe disease have variable rates of disease progression and different ages of onset.…”