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
| Time | Title / Speakers |
| 10:00-10:15 | Welcome and introduction Speakers: Anne Daly (UK) and Alice Dianin (IT) |
| 10:15-11:00 | Lecture 1 Specific urea cycle disorders: biochemical alterations and therapies Speaker: Dr Julien Baruteau (UK) |
| 11:00-11:10 | |
| 11:10-11:55 | Lecture 2 Dietary management of newly diagnosed neonates Speakers: Dr Daniela Karall and Monika Jorg Streller (AUT) |
| 11:55-12:40 | WORKSHOP LIVE Case 1 – Feeding an infant patient Speaker: Monika Jorg Streller (AUT) |
| 12:40-13:10 | |
| 13:10-13:55 | Lecture 3 Long-term dietary management from weaning age Speaker: Rachel Skeath (UK) |
| 13:55-14:40 | Lecture 4 A series of UCD case examples Speaker: Marjorie Dixon (UK) |
| 14:40-15:10 | |
| 15:10-15:55 | WORKSHOP LIVE Case 2 – A child with feeding problems Speaker: Julia Ackrill (UK) |
| 15:55-16:40 | Lecture 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) |
| 16:40-17:25 | WORKSHOP LIVE Case 3 – Emergency regimen for a child Speaker: An Desloovere (BE) |
| 17:25-17:35 | Wrap up and conclusion Speaker: Anne Daly (UK) |
| Time | Title / Speakers |
|---|---|
| 10:00-10:10 | Welcome and introduction Speaker: Charlotte Ellerton (UK) |
| 10:10-10:55 | Lecture 7 Liver transplantation and nutritional management Speaker: Sara Giorda (IT) |
| 10:55-11:10 | Lecture 8 PARENTAL TESTIMONY – Life after liver transplantation: a family view Speakers: Parents of two siblings (UK) |
| 11:10-11:40 | |
| 11:40-12:10 | Lecture 9 Dietary management of adult patients Speaker: Diane Green (UK) |
| 12:10-12:55 | WORKSHOP LIVE Case 4 – A newly diagnosed adult patient Speaker: Alison Woodall (UK) |
| 12:55-13:25 | |
| 13:25-13:55 | Lecture 10 Adult patients and triggers for metabolic decompensations Speaker: Bénédicte Samba (FR) |
| 13:55-14:40 | WORKSHOP LIVE Case 5 – An adolescent with frequent metabolic decompensations Speaker: Charlotte Ellerton (UK) |
| 14:40-15:10 | Multiple-choice final test and Test solution Speaker: Charlotte Ellerton (UK) |
| 15:10-15:20 | Conclusion – End of Meeting and future appointments Speakers: Júlio César Rocha (PT) and Alice Dianin (IT) |