Training Resources
INTRODUCTORY TRAINING MODULES
01. The Effects of a Metabolic Block
A description of how metabolic pathways can be disturbed by metabolic disease and the pathogenesis of the disease.
Provider: MetBio
Posted: 31-Aug-2009, Expires: 31-Aug-2011, Contact: Dr George Gray
02. Amino Acid Disorders
A short description of the major amino acid disorders that can present at a DGH and the methods used to detect them.
Hyperglycinaemia, Maple Syrup Urine Disease, Tyrosinaemia, Homocystinuria, Cystinuria, Phenylketonuria
Provider: MetBio
Posted: 31-Aug-2009, Expires: 31-Aug-2011, Contact: Mick Henderson
03. Organic Acid Disorders
A short description of the major organic acid disorders that can present at a DGH and the methods used to detect them.
Propionic Acidaemia,Methylmalonic Aciduria, Glutaric Aciduria Type 1
Provider: MetBio
Posted: 1-Sep-2009, Expires: 30-Sep-2011, Contact: Donna Fullerton
04. Carbohydrate Disorders
A short description of the major disorders of carbohydrate metabolism that can present at a DGH and the methods used to detect them.
Glycogen Storage Diseases, Gluconeogenetic Disorders,Galactosaemia, Hereditary Fructose Intolerance. G6PDH deficiency
Provider: MetBio
Posted: 1-Sep-2009, Expires: 30-Sep-2011, Contact: Beverley Hird
05. Lysosomal Storage Disorders
A short description of the major lysosomal disorders that can present at a DGH and the methods used to detect them.
Mucopolysaccharidoses, Oligosaccharidoses, Gauchers.
Provider: MetBio
Posted: 28-Jun-2010, Expires: 30-Jun-2011, Contact: Teresa Wu
06. Urea Cycle Defects
A short description of the major disorders causing hyperammonaemia that can present at a DGH and the methods used to detect them.
OTC Deficiency, CPS Deficiency, Argininosuccinic Aciduria, Citrullinaemia.
Provider: MetBio
Posted: 5-Sep-2009, Expires: 5-Sep-2011, Contact: Mick Henderson Leeds
Awaiting publication of document / presentation
07. Lactic Acidaemias
A short description of the major disorders affecting lactate metabolism that can present at a DGH and the methods used to detect them.
Respiratory Chain Disorders, PDH Deficiency
Provider: MetBio
Posted: 30-Jul-2010, Expires: 1-Aug-2011, Contact: Robert Barski, Leeds
08. Fatty Acid Oxidation Defects
A short description of the major fatty acid oxidation disorders that can present at a DGH and the methods used to detect them.
MCADD, Long chain fatty acid oxidation defects, Multiple Fatty Acid Oxidation Defects, carnitine deficiency
Provider: MetBio
Posted: 5-Sep-2009, Expires: 5-Sep-2010, Contact: Camilla Reed Sheffield
09a. Other Metabolic Disorders - Peroxisomal Disorders
A short description of the other inherited metabolic disorders that can present at a DGH and the methods used to detect them.
Provider: MetBio
Posted: 18-Aug-2010, Expires: 18-Aug-2011, Contact: George Gray (Birmingham)
09b. Other Metabolic Disorders - Trace Metal Disorders
A short description of the other inherited metabolic disorders that can present at a DGH and the methods used to detect them.
Provider: MetBio
Posted: 18-Aug-2010, Expires: 18-Aug-2011, Contact: Chris Chaloner (Manchester)
Awaiting publication of document / presentation
09c. Other Metabolic Disorders - Purine & Pyrimidine Disorders
A short description of the other inherited metabolic disorders that can present at a DGH and the methods used to detect them.
Provider: MetBio
Posted: 18-Aug-2010, Expires: 18-Aug-2011, Contact: Donna Fullerton (Nottingham)
10. Treatment and Monitoring
The current strategies available for the treatment and monitoring of inherited metabolic disease.
Dietary control, Vitamin-responsive disorders, Pathway Inhibition, Chelation, Transplantation (Liver, Kidney Bone Marrow), Enzyme Replacement Therapy
Provider: MetBio
Posted: 1-Jul-2010, Expires: 1-Jul-2011, Contact: Simon Jones, Leila Cornes, Emma Footitt
11. Prenatal Diagnosis
A brief description of the techniques used for sample collection and the types of testing available for the prenatal diagnosis of inherited metabolic disease.
Foetal Sexing Chorionic Villous Biopsy, Amniocentesis, Foetal Blood Sampling. Metabolite, enzymological and molecular genetic analysis.
Provider: MetBio
Posted: 5-Sep-2009, Expires: 5-Sep-2011, Contact: Tim Hutchin
12. Newborn Screening
The current services and tests for Newborn Screening in the UK
PKU, Hypothyroidism, Cystic Fibrosis, Sickle Cell Anaemia, MCADD
Provider: MetBio
Posted: 5-Sep-2009, Expires: 5-Sep-2011, Contact: Lesley Tetlow, Manchester
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All items may be subject to change from time to time.