Blood spots are integral to disease monitoring in PKU, however, there are concerns regarding correlation between capillary and plasma levels and discrepancies arising based on sampling quality and storage. Dr Rachel Carling explains how a volumetric blood collection device presents a cost effective way to improve consistency and reduce rejected samples. 

Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devices
Rachel S. Carling, et al
https://doi.org/10.1002/jmd2.12398

Shortcast: Relationship between plasma & capillary blood Phe using volumetric collection devices

Dr Malak Alghamdi unravels the mystery of a 32-year-old woman with a history of recurrent miscarriage and early neonatal death with congenital anomalies. 

Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman
Malak Ali Alghamdi, et al 
https://doi.org/10.1002/jmd2.12384

Metabolic mysteries: Recurrent miscarriage and congenital anomalies

Dr Maja Risager Nielsen and Dr François Feillet discuss pregnancy in PKU and two different papers looking at the outcomes in pregnancies with and without BH4 treatment. 

The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria
Maja Risager Nielsen, et al
https://doi.org/10.1002/jimd.12600

Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries
François Feillet, et al
https://doi.org/10.1002/jimd.12724

Pregnancy in phenylketonuria

Dr Roman Trepp attempts to answer the question, Do early-treated adults with phenylketonuria sense high phenylalanine levels?

Do early-treated adults with phenylketonuria sense high phenylalanine levels?
Laura Hauri, Raphaela Muri, Regula Everts, Roman Trepp
https://doi.org/10.1002/jmd2.12446

Shortcast: Do early-treated adults with phenylketonuria sense high phenylalanine levels?

Dr François Feillet returns to the podcast to discuss the final results of the KAMPER study, evaluating the long-term safety of sapropterin in phenylketonuria (phenylalanine hydroxylase deficiency).

Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study
François Feillet, et al
https://doi.org/10.1002/jimd.12796

KAMPER: Kuvan (BH4) in phenylketonuria

JIMD Podcasts is home to the Journal of Inherited Metabolic Disease podcast and the JIMD Shortcast. We're also proud to showcase Metabolic Mysteries and the new Footprints in IMD podcast.

New tracks tagged #Phenylketonuria