Disorders Presentations
Below is a list of presentations supplied, with their permission, by members of the Metabolic Biochemistry Network and other colleagues.
Presentations are grouped by disorder theme.
Any personal patient information has been removed.
Copyright Disclaimer:
Presentations remain the intellectual property and responsibility of the author. Any queries relating to content should be addressed to the author and not to MetBioNet. Permission to reproduce or otherwise use any of the material contained within these presentations must be sought from the author.
- AMINO ACIDS:
- CARBOHYDRATE:
- Citrin Deficiency - The "chubby baby" story
- Deficiencies of Disaccharidases:
- Disorders of galactose and fructose metabolism:
- DNA Analysis in the Glycogen Storage Diseases:
- Glycogen Metabolism: An Overview
- Glycogen Storage Diseases -Clinical Presentation and Treatment:
- Glycogen Storage Disorders The role of biochemistry in diagnosis:
- Management of an Adult with GSD1a:
- Non-Lysosomal Glycogen Storage Disorders-Biochemical Diagnosis:
- FATTY ACID OXIDATION:
- LYSOSOMAL:
- METAL ION:
- NEUROTRANSMITTER DISORDERS:
- ORGANIC ACIDS:
- PEROXISOMAL:
- PERSONAL PATIENT EXPERIENCES:
- PORPHYRIA:
- PURINE & PYRIMIDINE:
- RESPIRATORY CHAIN:
- OTHERS:
AMINO ACIDS:
There are currently no presentations in this section. Please see the Methods page for a comprehensive list of amino acid related presentations.
CARBOHYDRATE:
Citrin Deficiency - The "chubby baby" story
[Intermediate Level]
Provider: MetBioNet
Posted: 22-Jun-2012,
Date for Routine Review: 22-Jun-2017
Deficiencies of Disaccharidases:
[Introductory Level]
Dr Tim Hutchin, Principal Clinical Scientist, Birmingham Childrens Hospital
A presentation given to trainees in laboratory IMD in October 2010.
Provider: MetBioNet
Posted: 21-Jan-2011,
Date for Routine Review: 21-Jan-2016
Disorders of galactose and fructose metabolism:
[Introductory Level]
Mary Anne Preece, Consultant Clinical Biochemist, Birmingham Childrens Hospital
A presentation given to trainees in laboratory IMD in October 2010
Provider: MetBioNet
Posted: 21-Jan-2011,
Date for Routine Review: 21-Jan-2016
DNA Analysis in the Glycogen Storage Diseases:
[Advanced Level]
Dr Nick Beauchamp, Sheffield Childrens Hospital
A presentation given to trainees in laboratory IMD in October 2010 and at the meeting at GOSH on Glycogen on 2 February 2011
Provider: GOSH
Posted: 2-Aug-2011,
Date for Routine Review: 2-Aug-2016
Glycogen Metabolism: An Overview
[Introductory Level]
Presented at a meeting on 2/2/11 at GOSH on "Glycogen-Biochemical,Clinical & Diagnostic Aspects"
Provider: GOSH
Posted: 26-Jul-2011,
Date for Routine Review: 26-Jul-2016
Glycogen Storage Diseases -Clinical Presentation and Treatment:
[Introductory Level]
Dr Pat McKiernan, Consultant Paediatric Hepatologist, Birmingham Childrens Hospital
A presentation given to trainees in laboratory IMD in October 2010
Provider: MetBioNet
Posted: 21-Jan-2011,
Date for Routine Review: 21-Jan-2016
Glycogen Storage Disorders The role of biochemistry in diagnosis:
[Intermediate Level]
Katie Bainbridge, Principal Clinical Biochemist, Great Ormond Street Hospital
A presentation given to trainees in laboratory IMD in October 2010.
Provider: MetBioNet
Posted: 21-Jan-2011,
Date for Routine Review: 21-Jan-2016
Management of an Adult with GSD1a:
[Intermediate Level]
Provider: GOSH
Posted: 5-Sep-2011,
Date for Routine Review: 5-Sep-2016
Non-Lysosomal Glycogen Storage Disorders-Biochemical Diagnosis:
[Intermediate Level]
Presented at a meeting on 2/2/11 at GOSH on "Glycogen-Biochemical,Clinical & Diagnostic Aspects"
Provider: GOSH
Posted: 26-Jul-2011,
Date for Routine Review: 26-Jul-2016
FATTY ACID OXIDATION:
Fat oxidation and defects of the mitochondrial respiratory chain:
[Intermediate Level]
Provider: MetBio
Posted: 1-Jun-2005,
Date for Routine Review: 1-Jun-2010
Fatty Acid Oxidation Disorders-an update:
[Intermediate Level]
Fiona Carragher
Provider: MetBioNet
Posted: 22-Jun-2012,
Date for Routine Review: 22-Jun-2017
LYSOSOMAL:
Clinical Aspects of Pompes:
[Introductory Level]
Presented at a meeting on 2/2/11 at GOSH on "Glycogen-Biochemical,Clinical & Diagnostic Aspects"
Provider: GOSH
Posted: 16-Aug-2011,
Date for Routine Review: 16-Aug-2016
METAL ION:
There are currently no presentations in this section.
NEUROTRANSMITTER DISORDERS:
Disorders of Dopamine and Serotonin
[Introductory Level]
Provider: MetBio
Posted: 1-May-2007,
Date for Routine Review: 1-May-2012
ORGANIC ACIDS:
There are currently no presentations in this section. Please see the Methods page for a collection of O.A related presentations.
PEROXISOMAL:
Peroxisomal disorders
[Introductory Level]
Provider: MetBio
Posted: 1-Jul-2003,
Date for Routine Review: 1-Jul-2008
PERSONAL PATIENT EXPERIENCES:
Pompes Disease - My Journey:
Presented at a meeting on 2/2/11 at GOSH on "Glycogen-Biochemical,Clinical & Diagnostic Aspects"
Provider: GOSH
Posted: 16-Aug-2011,
Date for Routine Review: 16-Aug-2016
PORPHYRIA:
Introduction and Clinical Aspects of Porphyria:
[Introductory Level]
Provider: MetBio
Posted: 1-Jun-2006,
Date for Routine Review: 1-Jun-2011
PURINE & PYRIMIDINE:
There are currently no presentations in this section. Please see the Methods page for a collection of related presentations.
RESPIRATORY CHAIN:
Mitochondrial Diseases Due To Nuclear Gene Defects:
[Intermediate Level]
Provider: MetBio
Posted: 1-Jun-2005,
Date for Routine Review: 1-Jun-2010
Mitochondrial DNA Disease: Clinical and histochemical features:
[Intermediate Level]
Provider: MetBio
Posted: 1-Jun-2005,
Date for Routine Review: 1-Jun-2010
Presentation and investigation of mitochondrial disease in children:
[Intermediate Level]
Provider: MetBio
Posted: 1-Jul-2005,
Date for Routine Review: 1-Jul-2010
OTHERS:
A Short Case Study – Sulphite Oxidase Deficiency picked up on Amino Acid Analysis:
A presentation by Catherine Treslove Principal Clinical Scientist Alder Hey Children's Hospital.
Provider: MBN BMS Training Group
Posted: 14/11/2019
Copyright Disclaimer:
Presentations remain the intellectual property and responsibility of the author. Any queries relating to content should be addressed to the author and not to MetBioNet. Permission to reproduce or otherwise use any of the material contained within these presentations must be sought from the author.