RESOURCES FOR RARE DISORDERS OF PROTEIN METABOLISM

This section offers resources associated with the dietary management of some of the rarer disorders of protein metabolism, including topics such as emergency regimens (ERs). Here you will find case studies, practical guides and videos.

These resources have been developed in conjunction with Key Opinion Leaders (KOLs) and healthcare professionals.

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Case Study

Introducing PDE reach5

04/06/2025
medical team sat round table
Events

Exploring Pyridoxine Dependent Epilepsy (PDE) ​Unanswered questions and new perspectives​ | Event Recording

29/11/2024
woman holding her baby bump
Webinars

Dietary Management of Maternal Homocystinuria (HCU) | Webinar Recording

12/11/2024
woman making notes listening to digital event
Events

MSUD Management in Adults | Event Recording 

27/05/2024
family
Webinars

Feeding Challenges in IEM: What to Know, What to Do, When to Refer | Webinar Recording

20/10/2023
Father and son walking through forest
Practical Resources

PDE reach5 HCP and Parent guides | Practical Guide

28/11/2023
Infant in hospital
Case Studies

Use of Single Dose L-Isoleucine and L-Valine as part of the emergency management for Maple Syrup Urine Disease (MSUD) | Case Study

01/12/2022
Straight road with sunset
Practical Resources

express & express plus+ | Practical Guides

21/10/2022
Magnifying glass on paper with calculations
Practical Resources

GMP Focus – 2021-2022 in review | Evidence Summary

01/07/2022
The urea cycle diagram
Events

Nutritional Management of Urea Cycle Disorders | Event Recording

23/03/2022
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Practical Resources

express™ | Preparation Video

01/02/2022
Close up of camera lens
Practical Resources

express™ plus | Preparation Video

01/02/2022