SSIEM announces as a new initiative the support for guideline development.

SSIEM members interested in this should follow the application process in the attached form.

Please submit the completed form at any time to the Honorary Secretary SSIEM. Your proposal will be evaluated by a committee from SSIEM Council members. The final decision will be made at the next forthcoming Council meeting (these meetings are held each in March, July, September, and December) and thereafter communicated to you.

Application form

Contact SSIEM Honorary Secretary



Approved 18 January

Carlo Dionisi-Vici  / Martina Huemer
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
€ 20,000.00

Completion Date January 2026



Approved 3 June

Bernd Schwahn
Consensus guidelines for the diagnosis and management of sulphite intoxication disorders: isolated sulphite oxidase deficiency and molybdenum cofactor deficiencies
€ 20,000.00

Completion Date November 2023

Approved 22 June

Emma Footitt / Philippa MIlls
The Diagnosis and Management of Pyridoxamine 5’ Phosphate Oxidase (PNPO) deficiency 
€ 20,000.00

Completion Date Extended March 2025



Approved 23 March

Ute Spiekerkötter
Consensus Guideline for the diagnosis and management of long-chain fatty acid oxidation defects
€ 20,000.00

Completion Date Extended November 2024



Approved 3 September

Patrick Forny & Matthias Baumgartner
Update MMA/PA Guidelines
€ 10,000.00

Completion Date April 2021


Membership of the Society is open to all interested in and willing to support the aims of the Society.

 Membership 2024      User Profile


SSIEM Administrator

Society for the Study of Inborn
Errors of Metabolism (SSIEM)
PO Box 3375,
South Croydon, CR2 1PN 
United Kingdom

Registered Office: 
The Society for Study of Inborn Errors of Metabolism,
C/O Stone King LLP,
Boundary House,
91 Charterhouse Street,
London, United Kingdom, EC1M 6HR

Registered Charity No.1010639
Registered Company No.2567711
Website & Contents © SSIEM 2005-2020


JIMD Online

Access for Members
Journal of Inherited Metabolic Disease

About the Journal

SSIEM E-Learning

now released
Online learning resource


We use cookies

We use cookies on our website. Some of them are essential for the operation of the site, while others help us to improve this site and the user experience (tracking cookies). You can decide for yourself whether you want to allow cookies or not. Please note that if you reject them, you may not be able to use all the functionalities of the site.