Metabolic Matters

Your quarterly MSUK magazine.

We’re looking at clinical trials with a spotlight on OTC Deficiency. See what life with OTC deficiency can look like through Ava’s story, learn about the science we’re currently seeing in the clinical trial landscape, and find out about some upcoming and on-going clinical trials.There’s changes to our Coffee Lounge sessions and Peer Support, alongside updates about upcoming projects.

And whilst you’re here, why not check out our word search or join our 2024 London Marathon team?

Your quarterly MSUK magazine.

Welcome to our first edition of the year! Meet our London Marathon Runners and find out how you can support them. Read all about the momentous milestone for people living with HPP, what the Newborn Screening Collaborative are up to, and what the 2023 iteration of the England Rare Disease Action Plan means for you.

Finally, meet our new team members and learn how to help us for free through easyfundraising. Don’t miss our new wordsearch!

Your monthly MSUK magazine.

Dive into our tenth issue which covers the UK Rare Disease Framework, specifically on priority area two which is educating healthcare professionals about rare disease, with an in depth article from Medics 4 Rare Disease. Next, meet and RareAware Glasgow, a student-led society which is dedicated to raising awareness about rare diseases.

Finally, learn about our family fun day and see how you can get involved!

Your monthly MSUK magazine.

Dive into our ninth issue which is focused on the London Marathon, our runners and what it means for Metabolic Support UK.

Learn about the MPS Society, their work to assist people with MPS, Fabry and related lysosomal diseases and their incredible Wood of Remembrance and Hope. Next, find out about Leukodystrophy awareness month from Alex TLC and their work to increase visibility for the condition over the course of September.

Finally, join us at our free annual event which is a family fun day taking place at Chester Zoo and find out how to get involved.

Your monthly MSUK magazine.

Dive into our eighth issue which explores GLUT1 deficiency and the amazing organisation that supports individuals living with this condition.

Learn the latest of what’s going on at MSUK, the work of Cystinosis Foundation UK and their vision for the future!

Finally, support our London Marathon team and find out how to get involved!

Your monthly MSUK magazine.

Dive into our seventh issue which explores the government’s “Data Saves Lives” strategy, aiming to improve health and social care through harnessing the power of data.

Next, read about our Wessex Paedeatric Study Day on Metabolic Medicine where we worked with representatives from our communities to educate healthcare professionals about IMDs.

Do you want treatments, better research and more accurate diagnostics? Read about the real world evidence framework to find out how this could be made possible.

Ever wondered what CSID is? Find out about the symptoms, diagnosis and treatment of this condition.

What do research labs do for Inherited Metabolic Disorders? The team at the laboratory of inborn errors of metabolism (Rio) filled us in on their amazing work in this space.

Next, the read the story of Kieron’s battle with Citrullinaemia as told by his mother, Tori.

Finally, donate to our London Marathon runners and find out how to get involved!

Your monthly MSUK magazine.

Dive into our sixth issue which explores Inherited Metabolic Disorders and Metabolic Disorders Awareness Week, with key insights into our big three IMD projects that promise to change the game for people living with Inherited Metabolic Disorders.

Learn about the signs and symptoms of UCDs, how they’re treated and the dangers of hyperammonemia. Discover the work we’ve been doing this month from developing a new website to creating assets for Metabolic Disorders Awareness Week.

Next, find out the story of our London Marathon runners and join our team yourself! Living with HPP and need some guidance on discussing your healthcare? Download our discussion kit! Finally, get involved by donating, fundraising or volunteering!

Your monthly MSUK magazine.

Dive into our fifth issue which explores the future of medicine, with key insights into whole genome sequencing and gene therapies that promise to revolutionise medicine for Inherited Metabolic Disorders in both detection and treatment.

Learn about the signs and symptoms of hypophosphatasia, how it’s treated and how managed access agreements have provided people a new lease of life on Strensiq. Discover the work we’ve been doing this month from advocating for our communities to working with Genomics England and learning how to support you with accessing travel insurance.

Next, our friends at the Beacon for Rare Disease are hosting an in-person event, learn more about it and how to register… see you there! Finally, find out about our London Marathon 2022 team and how you can get involved!

Your monthly MSUK magazine.

Dive into our fourth issue which explores newborn screening in the UK and in developing countries as we undertake a consultation to determine whether Tyrosinaemia will be added to the UK’s newborn screening programme. Find out about our collaboration with Alex TLC in developing the inherited white matter registry and about their incredible work helping people living with genetic leukodystrophy.

Discover the work we’ve been doing this month from creating resources for refugees and homeless centres to developing our big three IMD projects that aim to change the game for IMDs, ensuring anyone affected is given equal access to care and representation. Next, our friends at the MPS society have been celebrating Fabry awareness month over April, sharing incredible real life stories whilst educating people on the
condtion and how it affects people.

Finally, find out about our London Marathon 2022 team and how you can get involved!

Your monthly MSUK magazine.

Dive into our third issue which explores rare disease in conflict, what actions are being taken and how you can help. Explore NSPKU’s response to Ukraine and find out more about phenylketonuria (PKU).

Discover positive news in the world with the UK’s new rare disease action plan what and find out we’ve been up to this month and discover more about us and our London Marathon team.

Finally, find out how to get involved with MSUK, we couldn’t do it without you.

Your monthly MSUK magazine.

Dive into our second issue which explores insight and our life at MSUK, as we give you unparalleled access to how we work and what we’ve been up to this month. Discover MLD and how Libmeldy’s approval may change the course of the disease and celebrate rare disease day with us and Nutricia’s low protein chocolate cake.

Meet Genetic Alliance UK and find our about their incredible work supporting organisations like ours and discover how they set up Rare Disease UK and SWAN UK.

Finally, find out how to get involved with MSUK, we couldn’t do it without you.

Your monthly MSUK magazine.

Dive into our first issue which covers a wide range of topics from COVID-19 to rare disease diagnosis. Explore integrated care systems and what they mean for you and learn more about individual IMDs (This month’s we focus on MCADD).

We work for you! January’s been a busy month for MSUK, find out what we’ve done to support you. We’re stronger together. Each month we shine a spotlight our friends in the charity world, this month..meet Beacon (previously Findacure) and register for #RareShowcase22.

Do you just feel like running? How about 26.2 miles for #TeamMSUK? Applications are open to join our team for The London Marathon 2022, application inside. Good luck