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1502012. 11th February 2015.

Inherited Metabolic Disorders

Some people are born with a genetic disorder that prevents the body from processing certain nutrients properly. The term inherited metabolic disorder 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 disorder and the recommended strategies for dietary manangement below.

The Beat - A Nutricia Podcast Series

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

Podcasts | Inherited Metabolic Disorders
28 mins

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

Podcasts | Inherited Metabolic Disorders
32 mins

The Beat podcast - A day in the life of… an Adult Metabolic Dietitian

Podcasts | Inherited Metabolic Disorders
32 mins

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

Podcasts | Inherited Metabolic Disorders
25 mins

DMIMD 2021

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

Recorded webinars & presentations | Inherited Metabolic Disorders
49 mins

DMIMD 2021 - Adult PKU outcomes: Study of a National Cohort of Adult Patients With Phenylketonuria

Recorded webinars & presentations | Inherited Metabolic Disorders
37 mins

DMIMD 2021 - VLCADD cases

Recorded webinars & presentations | Inherited Metabolic Disorders
44 mins

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

Recorded webinars & presentations | Inherited Metabolic Disorders
36 mins

DMIMD 2021 - Treatable metabolic epilepsies with focus on nutritional interventions

Recorded webinars & presentations | Inherited Metabolic Disorders
52 mins

DMIMD 2021 - Fabry and the gut

Recorded webinars & presentations | Inherited Metabolic Disorders
39 mins

DMIMD 2020

DMIMD - 2020 Day 1 Session 1

Recorded webinars & presentations | Inherited Metabolic Disorders
2 hours 10 mins

DMIMD 2020 - Day 2 Session 1

Recorded webinars & presentations | Inherited Metabolic Disorders
1 hour 41 mins

DMIMD 2020 - Day 2 Session 2

Recorded webinars & presentations | Inherited Metabolic Disorders
1 hour 56 mins

DMIMD 2019

DMIMD 2019 - Over restriction of dietary protein allowance: The importance of ongoing reassessm

Recorded webinars & presentations | Inherited Metabolic Disorders
16 mins

DMIMD 2019 - Stem Cell Therapy in PKU

Recorded webinars & presentations | Inherited Metabolic Disorders
37 mins

DMIMD 2019 - Proprionic Acidaemic

Recorded webinars & presentations | Inherited Metabolic Disorders
17 mins

DMIMD 2019 - Supporting families living with MCADD

Recorded webinars & presentations | Inherited Metabolic Disorders
13 mins

DMIMD 2019 - The use of Continuous Glucose Monitoring in Complex Metabolic Patients

Recorded webinars & presentations | Inherited Metabolic Disorders
27 mins

DMIMD 2019 - Inherited Metabolic Disorders: A guide for parents of a child detected by screening

Recorded webinars & presentations | Inherited Metabolic Disorders
13 mins

DMIMD 2019 - The Galactosaemia Support Group (GSG) - past, present and future

Recorded webinars & presentations | Inherited Metabolic Disorders
21 mins

DMIMD 2019 - Gyrate Atrophy - clinical experience and challenges of management in a young population

Recorded webinars & presentations | Inherited Metabolic Disorders
17 mins

Other resources

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

Recorded webinars & presentations | Inherited Metabolic Disorders
39 mins

The complete European guidelines on phenylketonuria: diagnosis and treatment

Clinical Papers | Inherited Metabolic Disorders
30 mins

Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis

Clinical Papers | Inherited Metabolic Disorders
30 mins

GA1 Patient Story

Videos | Inherited Metabolic Disorders
4 mins

 

 

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