John H. Walter

TL;DR: Although study designs and patient numbers are sub-optimal, many statements are convincing, important and relevant and knowledge gaps are identified which require further research in order to direct better care for the future.

TL;DR: Ten recommendations formulated to optimise phenylketonuria (PKU) care are described, from the 70 recommendations formulated, that are described as having the highest priority.

TL;DR: The time may be right for revisiting the guidelines for follow up of PKU in order to address a number of important issues related to PKU management: promotion of breastfeeding to complementary feeding up to 2 years of age, treatment advancements for metabolic control, blood phe and tyr variability, routine screening measures for nutritional biomarkers, neurocognitive and psychological assessments, bone pathology.

TL;DR: The literature regarding the vitamin B(12) status of patients with phenylketonuria was reviewed and it was recommended that plasma total homocysteine and plasma or urinary methylmalonate should be routinely measured, as they are more sensitive markers of deficiency than serum B( 12) concentrations.

TL;DR: To determine if newborn population screening for the diagnosis of homocystinuria due to cystathionine beta synthase deficiency leads to clinical benefit compared to later clinical diagnosis, and if uncontrolled case-series which support the efficacy of newborn screening for homocyStinuria and its early treatment are known.