Pre course activities

1 month before: 

  • Survey for attendees: number of MMA patients followed and years of experience, classification (pediatric/adult), problems and difficulties related to the dietetic management, use of protein substitutes (amino acid supplementation)


2 weeks before:

  • Recorded lecture: Epidemiology; Pathophysiology (enzyme defects); Genetics; Newborn screening (biomarkers; differential diagnosis; maternal b12 deficiency); Clinical onset presentation and classification; types of MMA; MMA guidelines.
  • Recorded lecture: Nutritional assessment in organic acidaemias, including: Dietary assessment; Anthropometry (and body composition); Growth; Biochemical monitoring general and metabolic test like full aminoacid profile (for instance impaired growth and chronic aa imbalances; pediatric and adult malnutrition (signs and biochemistry), physical examination, nutritional assessment in intensive care unit.
  • Pre-course Work: calculation with examples (protein exchanges, enteral feeding, emergency regimens) according to the workshops

Post-course assessment:

  • Individual attendance (more than 75% of the teaching time)
  • Final test completed
  • Satisfaction survey

All times indicated are CET

TimeTitle / Speakers
10:00-10:15Welcome and introduction
Speakers: Anne Daly (UK) and Alice Dianin (IT)
10:15-11:00Lecture 1
Specific urea cycle disorders: biochemical alterations and therapies
Speaker: Dr Julien Baruteau (UK)
11:10-11:55Lecture 2
Dietary management of newly diagnosed neonates
Speakers: Dr Daniela Karall and Monika Jorg Streller (AUT)
11:55-12:40WORKSHOP LIVE
Case 1 – Feeding an infant patient
Speaker: Monika Jorg Streller (AUT)
13:10-13:55Lecture 3
Long-term dietary management from weaning age
Speaker: Rachel Skeath (UK)
13:55-14:40Lecture 4
A series of UCD case examples
Speaker: Marjorie Dixon (UK)
15:10-15:55WORKSHOP LIVE
Case 2 – A child with feeding problems
Speaker: Julia Ackrill (UK)
15:55-16:40Lecture 6
Biochemical monitoring of different UCD and interpretation of results from a nutritional point of view
Speaker: Mary Anne Preece (UK) and Anne Daly (UK)
16:40-17:25WORKSHOP LIVE
Case 3 – Emergency regimen for a child
Speaker: An Desloovere (BE)
17:25-17:35Wrap up and conclusion
Speaker: Anne Daly (UK)

TimeTitle / Speakers
10:00-10:10Welcome and introduction
Speaker: Charlotte Ellerton (UK)
10:10-10:55Lecture 7
Liver transplantation and nutritional management
Speaker: Sara Giorda (IT)
10:55-11:10Lecture 8
PARENTAL TESTIMONY – Life after liver transplantation: a family view
Speakers: Parents of two siblings (UK)
11:40-12:10Lecture 9
Dietary management of adult patients
Speaker: Diane Green (UK)
12:10-12:55WORKSHOP LIVE
Case 4 –
A newly diagnosed adult patient
Speaker: Alison Woodall (UK)
13:25-13:55Lecture 10
Adult patients and triggers for metabolic decompensations
Speaker: Bénédicte Samba (FR)
13:55-14:40WORKSHOP LIVE
Case 5 –
An adolescent with frequent metabolic decompensations
Speaker: Charlotte Ellerton (UK)
14:40-15:10Multiple-choice final test and Test solution
Speaker: Charlotte Ellerton (UK)
15:10-15:20Conclusion – End of Meeting and future appointments
Speakers: Júlio César Rocha (PT) and Alice Dianin (IT)