CONFERENCES:

 

2nd METABOLIC WORKSHOP OF THE
SOUTH AFRICAN INHERITED METABOLIC DISEASE GROUP
THE AMINOACIDURIAS AND THE ORGANIC ACIDURIAS

The Wolfson Building, UCT Faculty of Health Sciences

Friday 9 April — Saturday 10 April 2010


PROGRAMME

PDF   Click on the presentation title to download a PDF version

Friday 9 April 2010
 
Time Topic Speaker
13:30 – 14:00 Registration  
14:00 – 14:10 Welcome Dr George vd Watt
NHLS and UCT
14:10 – 14:50 Disorders of Branch Chain Amino Acid Catabolism and their Laboratory Diagnosis Dr Peter Berman
NHLS and UCT
14:50 – 15:10 Organic Acidaemia in the Neonatal Period Dr Natasha Rhoda, UCT
15:10 – 15:30 An Audit of the IMD Diagnostic Services at UCT Hospitals 2006 - 2010 Dr George vd Watt
NHLS and UCT
15:30 – 15:45 Tea and Coffee  
15:45 – 16:15 Methyl Malonic Acid – what does it mean? Dr David Haarburger
NHLS and UCT
16:15 – 16:45 Case Presentation:
"A Simple Case of Neonatal Un-conjugated Hyperbilirubinaemia?" 		Dr Fierdoz Omar
NHLS and UCT
16:45 – 17:00 Questions and Discussion  

 

Saturday 10 April 2010
 
Time Topic Speaker
08:30 – 09:00 Isovaleric and Propionic Acidaemia in South Africa Prof Japie Mienie
North West University
09.00 – 09:30 The Role of the Human Geneticist in the management of patients with Inborn Errors of Metabolism Dr Mike Urban
NHLS and UNISTEL
09:30 – 10:00 Dysmorphism and Clinical Signs associated with disorders of Organic and Amino acids Dr Karen Fieggen
NHLS and UCT
10:00 – 10:15 Tea and Coffee  
10:15 – 10:30 New Developments in Newborn Screening Greg Northfield
10:30 – 11:00 Dietary Management of selected Disorders of Organic and Amino Acid Metabolism Bernadette Saayman
Red Cross Hospital
11:00 – 12:00 Case  Presentations:

"A not so Accidental Injury"

"Gout with a Bite"
Dr Sally Ackermann
Paediatric Neurology, UCT

Dr Philip Fortgens
NHLS and UCT

12:00 – 12:30 Questions and Discussions  
12:30  First Annual General Meeting  of
The Southern African Inherited Metabolic Diseases  Group  (SAIMDG)		 ALL WELCOME Agenda
Welcome, Apologies
Election of Committee
Membership and Fee
Future Meetings and Links
General

 

 

1ST SOUTH AFRICAN METABOLIC DISEASE SYMPOSIUM

INVESTEC SOUTH AFRICA
FRIDAY 27 – SUNDAY 29 MARCH 2009


PROGRAMME

PDF   Click on the presentation title to download a PDF version

Day 1: Friday 27 March
 
13:00 Registration  
14:00 Introduction George van der Watt
14:05 Welcome Julie Anderson Investec South Africa
 
Session 1 – Disorders of Carbohydrate Metabolism
Chairpersons: George van der Watt and James Leonard
14:10-14:25 What makes it Metabolic?   Jennifer Cartwright
14:25-15:15 Plenary Lecture - Approach to Paediatric Hypoglycaemia Jim Bonham
15:15-15:30   TEA Sponsored by Nutricia/SHS
15:30-15:50   Neonatal Hyperinsulinism Ariane Spitaels
15:50-16:10   Galactosaemia in Southern Africa Howard Henderson
16:10-16:30   Glycogen Storage Diseases Steve Delport
16:30-17:00   Questions and answers on all topics presented in session 1  

 

Day 2: Saturday 28 March
 
Session 2: Inherited Metabolic Disease and Organ Failure Syndromes
Chairpersons: Jim Bonham and Jennifer Cartwright
8:10-9:00 Plenary Lecture –Diagnosis and Early Management of Inborn Errors Presenting Around Birth James Leonard
9:00-9:20   Inherited Cardiomyopathies Liesl Zuhlke
9:20-9:40   Acute Liver Failure associated with IMD’s Ettiene Nel
9:40-10:00  Renal Replacement Therapy for IMD Peter Nourse
10:00-10:15    TEA Sponsored by Nutricia/SHS
 
Session 3: Disorders of Amino Acid Metabolism and Molecular Diagnostics
Chairpersons: James Leonard and Jennifer Cartwright
10:15-11:00 Plenary Lecture - The Aminoacidopathies:
a systematic approach		 Brian Fowler
11:00-11:15 Urea Cycle Defects George van der Watt
11:15-11.25 Application of enzyme and metabolite assays to the diagnosis of IMDs Peter Berman
11:25-11:40 Molecular Diagnostic Approaches for IMDs in South Africa Tricia Owen
11:40-12:25 Plenary Lecture - Homocystinuria Brian Fowler
12:25-12:50   Questions and answers on all topics presented in sessions 2 and 3  
12:50-14:00  LUNCH Sponsored by Nutricia/SHS
 
Session 4: Fatty Acid Oxidation Disorders and Neurological presentations of IMD
Chairpersons: Jim Bonham and Brad Therrell
14:00-14:45 Plenary Lecture - Fatty Acid Oxidation Disorders, Clinical Presentations James Leonard
14:45-15:05 The Acutely Floppy Infant and IMD Ronald van Toorn
15:05-15:25 Movement Disorders associated with IMD Alvin Ndondo
15:25-15:40   TEA Sponsored by Nutricia/SHS
 
Session 5: Mitochondrial Disease and Human Genetics
Chairpersons:  Brian Fowler and Jennifer Cartwright
15:40-16:00   Mitochondrial Encephalomyopathies Gill Riordan
16:00-16:20  Experience with Mitochondrial Disorders I Smuts
16:20-16:40 Team Management of Metabolic Disorders Karen Fieggen
16:40-17:00  Questions and answers on all topics presented in sessions 4 and 5  
17:00   Newborn Screening Working Group Meeting (by appointment)
 

 

Day 3: Sunday 29 March
 
Round Table Discussion with International Speakers: Newborn Screening in a Developing Country: Is it feasible, if so how do we achieve it?
Moderator:  Jim Bonham
 
08:15–08:30 NBS to screen or not to screen Natasha Rhoda
08:30- 09:15 Setting up an NBS programme:- experience in developing countries Brad Therrell
09:15–10:05 Brief assessments of various NBS programs , 10 minutes each  
  European Experience Brian Fowler  
  UK Experience Jim Bonham   
  Private Practice experience in South Africa Peter Cole, Lancet Laboratories
  Newborn screening for cystic fibrosis in South Africa: Possibilities and Impediments Anthony Westwood
  Congenital Hypothyroidism in  the Western Cape Michelle Carrihill
10:05- 10:30 Open discussion and debate  
10:30-10:50 TEA Sponsored by Nutricia/SHS
10:50-11:30 Clinical Case Presentations of recent IMD’s managed in South Africa: 10 minutes each: Registrars within paediatric and pathology services  
  Biotinidase Deficiency David Haarburger
  MADD Fierdoz Omar
11:30 Closing Remarks George van der Watt

 

Symposium attendees

 

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