Case Reports
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.
We invite any professional (trainee or otherwise) who has a Case Report which they believe may be helpful to trainees to download the Case Study Template and submit a draft. The reports need not necessarily be about unusual or exotic cases. Simple cases can often be very helpful and informative. All personal patient details should be removed. Please forward the draft to George Gray (Contact details in the Case Report Template).
- Met Bio Net BMS Meeting Presentations:
- Training Case Reports:
- A Case of Galactosaemia with an Atypical Presentation
- A Case of Guanidinoacetate Methyltransferase (GAMT) Deficiency
- A Case of Isolated Glycerol Kinase Deficiency
- A Case of Metabolic Acidosis
- A Case of Neonatal Hyperammonaemia
- A Diagnosis Of Cystinosis
- Developmental Delay and Inherited Metabolic Disease
- Investigations of a Hypoglycaemic Infant
Met Bio Net BMS Meeting Presentations:
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
Amino Acylase I Deficiency
Provider: MBN BMS Training Group
Posted: 12/06/2009,
Contact: Jackie Udall, Addenbrooke's
The case of R: A slush puppy mystery
Provider: MBN BMS Training Group
Posted: 12/06/2009,
Contact: Deborah Riley, Alder Hey Liverpool
Diagnostic dilemma with Canavan Disease
Provider: MBN BMS Training Group
Posted: 12/06/2009,
Contact: Barbara Weddell, Leeds Teaching Hospital.
Training Case Reports:
A Case of Galactosaemia with an Atypical Presentation
Provider: MetBio
Posted: 1-Jun-2007,
Expires: 1-Jun-2019,
Contact: MetBio
A Case of Guanidinoacetate Methyltransferase (GAMT) Deficiency
Provider: BIMDG
Posted: 1-Jun-2009,
Expires: 1-Jun-2019, Contact: MetBio
A Case of Isolated Glycerol Kinase Deficiency
Provider: MetBio
Posted: 1-Jun-2009,
Expires: 1-Jun-2019,
Contact: MetBio
A Case of Metabolic Acidosis
Provider: ACB
Posted: 5-Jul-2011,
Expires: 15-Jul-2015,
Contact: MetBioNet
A Case of Neonatal Hyperammonaemia
Provider: MetBioNet
Posted: 27-May-2011,
Expires: 20-May-2015,
Contact: MetBioNet
A Diagnosis Of Cystinosis
Provider: MetBio
Posted: 1-Jun-2009,
Expires: 1-Jun-2019,
Contact: MetBio
Developmental Delay and Inherited Metabolic Disease
Provider: ACB
Posted: 20-Dec-2011,
Expires: 24-Dec-2014,
Contact: Caroline Griffith
Investigations of a Hypoglycaemic Infant
Provider: ACB
Posted: 27-Jun-2011,
Expires: 26-Jun-2015,
Contact: MetBioNet
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.