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[Adult phenylketonuria]

Csaba Sumánszki1, András Gellért Barta1, Péter Reismann1

  • 1II. Belgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Szentkirályi u. 46., 1084.

Orvosi Hetilap
|November 21, 2017
PubMed

Insights

Phenylketonuria (PKU) management has evolved, enabling affected individuals to lead full lives. This review focuses on adult PKU care, new guidelines, and emerging therapies.

Area of Science:

  • Metabolic Diseases
  • Genetics
  • Public Health

Background:

  • Phenylketonuria (PKU) has been part of Hungary's newborn screening since 1975.
  • Early diagnosis and dietary management allow individuals with PKU to reach adulthood with improved health outcomes.
  • PKU is transitioning from a pediatric to an adult metabolic disease requiring specialized care.

Purpose of the Study:

  • To review recent advancements in phenylketonuria (PKU) research and treatment.
  • To focus on the specific challenges and care requirements for adult patients with PKU.
  • To highlight new international guidelines and therapies for PKU management.

Main Methods:

  • Literature review of recent findings in phenylketonuria (PKU).
  • Analysis of current international guidelines and emerging therapeutic strategies.
  • Discussion of long-term outcomes and challenges in adult PKU care.

Main Results:

  • Early intervention in PKU significantly improves long-term quality of life.
  • Adult PKU care is increasingly managed in specialized internal medicine centers.
  • New therapies and guidelines are emerging, necessitating their integration into clinical practice.

Conclusions:

  • Phenylketonuria (PKU) management has advanced, allowing affected individuals to lead normal lives.
  • Ongoing research and updated guidelines are crucial for optimizing adult PKU care.
  • Future challenges include managing maternal PKU, long-term dietary effects, and sequelae of untreated PKU.

Keywords:
adultfelnőttmetabolic controlmetabolikus kontrollphenylketonuria

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