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Inherited Metabolic Disorders

Some people are born with a genetic disorder that prevents the body from processing certain nutrients properly. The term inherited metabolic disorders covers a wide range of conditions including disorders related to fat, carbohydrate and protein. Examples include PKU, HCU, MSUD, GA1, IVA and MMA/PA. These hereditary disorders are most often diagnosed at birth, or early on in life. Defects with certain enzymes prevent the body from breaking down certain types of nutrients. If we can’t break down those nutrients, we can't get rid of certain chemicals, and they build up in the body over time. Without careful monitoring and dietary management, these chemicals can have various consequences, including delays in physical and mental development. Learn more about inherited metaboic disorders and the recommended strategies for dietary manangement below.

The Beat - A Nutricia Podcast Series

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The Beat Podcast: A day in the life of… a Metabolic Research Dietitian

Podcasts | Inherited Metabolic Disorders | Dr James Nurse and Alex Pinto
28 mins
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The Beat Podcast: A day in the life of… a NSPKU Dietitian

Podcasts | Inherited Metabolic Disorders | Dr James Nurse and Suzanne Ford
32 mins
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The Beat podcast - A day in the life of… an Adult Metabolic Dietitian

Podcasts | Inherited Metabolic Disorders | Dr James Nurse and Louise Robertson
32 mins
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The Beat Podcast: A day in the life of… a Metabolic Biochemist

Podcasts | Inherited Metabolic Disorders | Dr James Nurse and Dr Rachel Carling
25 mins
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The Beat Podcast: A day in the life of… a Senior Clinical Psychologist in Paediatric Metabolic Medicine

Podcasts | Inherited Metabolic Disorders | Dr James Nurse and Dr Penny Andreou
28 mins
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The Beat Podcast: A day in the life of… a Consultant Paediatrician in Metabolic Medicine

Podcasts | Inherited Metabolic Disorders | Dr James Nurse and Dr Arunabha Ghosh
30 mins
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The Beat Podcast: A day in the life of… a newly qualified Dietitian and her Mentor

Podcasts | Inherited Metabolic Disorders | Dr James Nurse, Dr Anita Macdonald and Georgie Wood
28 mins

DMIMD 2024

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DMIMD 2024 – Activity and Chronic Disease

Recorded webinars & presentations | Inherited Metabolic Disorders | Aisling Pigott – Registered Dietitian, Wales
22 mins
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DMIMD 2024 - Nutrition and Sport in Amino Acid Disorders in Adults – Where are we now?

Recorded webinars & presentations | Inherited Metabolic Disorders | Sarah Howe – Specialist Adult Metabolic Dietitian, Birmingham
30 mins

DMIMD 2023

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DMIMD 2023 - NSPKU: National Society for Phenylketonuria – at 50: Past, Present and Future

Recorded webinars & presentations | Inherited Metabolic Disorders | Suzanne Ford, NSPKU, UK
28 mins
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DMIMD 2023 - The Introduction of BH4 Therapy in the Irish Paediatric PKU Cohort – Our Three-Year Experience

Recorded webinars & presentations | Inherited Metabolic Disorders | Maria Irranca and Jenny McNulty, Ireland
31 mins
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DMIMD 2023 - Determination of the lactose and galactose content of common foods: Relevance to Galactosaemia

Recorded webinars & presentations | Inherited Metabolic Disorders | Anne Clark and Sarah Connellan, Ireland
20 mins

DMIMD 2022

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DMIMD 2022 - Dietetic Management of Adults with PKU in the UK

Recorded webinars & presentations | Inherited Metabolic Disorders | Louise Robertson, Dietitan, Birmingham
32 mins
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DMIMD 2022 - The Phe eat or diet study: Effects of high versus low Phe levels on neurocognitive functioning and wellbeing in adults with PKU

Recorded webinars & presentations | Inherited Metabolic Disorders | Dr Margreet Wagenmakers, Consultant, Rotterdam
26 mins
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DMIMD 2022 - Experience of supplementary prescribing

Recorded webinars & presentations | Inherited Metabolic Disorders | Barbara Cochrane, Dietitian, Scotland
28 mins

DMIMD 2021

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DMIMD 2021 - Status of nutrients important in brain function in PKU

Recorded webinars & presentations | Inherited Metabolic Disorders | Cyril Marsaux, Danone Nutricia Research, Utrecht, The Netherlands
49 mins
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DMIMD 2021 - Adult PKU outcomes: Study of a National Cohort of Adult Patients With Phenylketonuria

Recorded webinars & presentations | Inherited Metabolic Disorders | Professor François Maillot, CHRU De Tours, France
37 mins
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DMIMD 2021 - VLCADD cases

Recorded webinars & presentations | Inherited Metabolic Disorders | Professor Rani Singh
44 mins

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DMIMD 2021 - Pyridoxine-dependent epilepsy, focus on the PDE consensus guidelines

Recorded webinars & presentations | Inherited Metabolic Disorders | Dr Laura Tseng
36 mins
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DMIMD 2021 - Treatable metabolic epilepsies with focus on nutritional interventions

Recorded webinars & presentations | Inherited Metabolic Disorders | Professor Clara van Karnebeek
52 mins
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DMIMD 2021 - Fabry and the gut

Recorded webinars & presentations | Inherited Metabolic Disorders | Alison Woodall
39 mins

DMIMD 2020

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DMIMD - 2020 Day 1 Session 1

Recorded webinars & presentations | Inherited Metabolic Disorders | Sarah Donald & Lisa Gaff, Loek Crefcoeur, Anne Daly
2 hours 10 mins
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DMIMD 2020 - Day 2 Session 1

Recorded webinars & presentations | Inherited Metabolic Disorders | Prof. Nenad Blau, Dr Kirsten Ahring
1 hour 41 mins
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DMIMD 2020 - Day 2 Session 2

Recorded webinars & presentations | Inherited Metabolic Disorders | Sarah Adam, Dr Jerry Vockley
1 hour 56 mins
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DMIMD 2020 - Characterizing the molecular architecture of the mitochondrial matrix: implications for inborn errors of metabolism

Recorded webinars & presentations | Inherited Metabolic Disorders | Dr Jerry Vockley
1 hour 7 mins

DMIMD 2019

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DMIMD 2019 - Stem Cell Therapy in PKU

Recorded webinars & presentations | Inherited Metabolic Disorders | Professor Roberto Gramignoli
37 mins
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DMIMD 2019 - Proprionic Acidaemic

Recorded webinars & presentations | Inherited Metabolic Disorders | Barbara Cochrane
17 mins

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DMIMD 2019 - Supporting families living with MCADD

Recorded webinars & presentations | Inherited Metabolic Disorders | Camille Newby
13 mins
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DMIMD 2019 - The use of Continuous Glucose Monitoring in Complex Metabolic Patients

Recorded webinars & presentations | Inherited Metabolic Disorders | Lisa Gaff & Sarah Donald
27 mins
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DMIMD 2019 - Inherited Metabolic Disorders: A guide for parents of a child detected by screening

Recorded webinars & presentations | Inherited Metabolic Disorders | Jess Doyle and Helen Morris
13 mins
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DMIMD 2019 - The Galactosaemia Support Group (GSG) - past, present and future

Recorded webinars & presentations | Inherited Metabolic Disorders | Pat Portnoi
21 mins
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DMIMD 2019 - Gyrate Atrophy - clinical experience and challenges of management in a young population

Recorded webinars & presentations | Inherited Metabolic Disorders | Dr Gisela Wilcox
17 mins

Other resources

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Dietary management of newborn screening IMD conditions. Nutricia Virtual Congress 2021

Recorded webinars & presentations | Inherited Metabolic Disorders | Camille Newby
39 mins
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The complete European guidelines on phenylketonuria: diagnosis and treatment

Clinical Papers | Inherited Metabolic Disorders | Nutricia Academy
30 mins
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Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis

Clinical Papers | Inherited Metabolic Disorders | Clinical Papers by Nutricia Academy
30 mins

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Glutaric aciduria type I: Quick reference guide

Downloads and Tools for Healthcare Professionals | Inherited Metabolic Disorders | Nutricia Academy
5 mins
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