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.

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Provider: MetBio
Posted: 31-Aug-2009, Expires: 20-Oct-2012, Contact: Dr George Gray

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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: 20-Oct-2012, Contact: Mick Henderson

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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

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Provider: MetBio
Posted: 1-Sep-2009, Expires: 20-Oct-2012, Contact: Donna Fullerton

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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: 20-Oct-2012, Contact: Beverley Hird

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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: 20-Oct-2012, Contact: Teresa Wu

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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: 20-Oct-2009, Expires: 20-Oct-2012, Contact: Mick Henderson Leeds

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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: 20-Oct-2012, Contact: Robert Barski, Leeds

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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: 20-Oct-2012, Contact: Camilla Reed Sheffield

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09. 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: 20-Oct-2012, Contact: George Gray (Birmingham)

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10. 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: 20-Oct-2012, Contact: Chris Chaloner (Manchester)

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11. Porphyria

Provider: MetBioNet
Posted: 9-May-2011, Expires: 9-May-2015, Contact: Mike Badminton

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12. 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: 20-Oct-2012, Contact: Donna Fullerton (Nottingham)

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13. 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.

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There is a slightly different version of this presentation created via the E-learning for Health project. To see this click "View Online

Provider: MetBio
Posted: 5-Sep-2009, Expires: 20-Oct-2012, Contact: Tim Hutchin

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14. 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: 20-Oct-2012, Contact: Simon Jones, Leila Cornes, Emma Footitt

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15. 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: 20-Oct-2012, Contact: Lesley Tetlow, Manchester

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Whilst the metabolic biochemistry network has taken every effort to provide accurate and up to date information for this website the stakeholders accept no liability or reponsibility for the accuracy or completeness of any information on this site.

All items may be subject to change from time to time.