What is SSADH’s deficit?
The deficiency of succinate semi-analdehyde dehydrogenase is an extremely rare hereditary and congenital metabolic disorder (about 450 cases known worldwide). SSADH deficiency is a deficiency of enzymes that leads to the accumulation of gamma-aminobutyric acid (GABA) in the body. GABA is one of the most important substances (inhibitory neurotransmitter) in the brain and controls human movements, among other things. In the event of a deficiency of SSADH, this signal transmission is disturbed, which has a significant influence on the central nervous system and leads to a severe impairment of neurological function. Thus, metabolic disorder is one of the neurotransmitter diseases.
What is the effect of the SSADH deficiency?
The disease does not present a uniform clinical picture. In all patients, however, it leads to moderate to severe developmental delays from early childhood. Children often have enormous problems such as heavy and fine motor impairment, hypotension, ataxia, mental disability, speech development disorders and often epilepsy. This leads to significant restrictions on the lives of the people affected and their families. At the moment there are no chances of a cure.
Rare Disease Challenges
The non-specific clinical picture and the rarity of the disease often lead to very late diagnosis or even no diagnosis at all. The supply of medicines, the lack of diagnostic and therapeutic standards and the necessary quality assurance are also inadequate or non-existent. The limited number of patients prevents the necessary basic research and development of therapies, although there may be opportunities for a cure.
Who we are:
SSADH-Defizit e.V. Board of Directors
The members of the Board of Directors were elected by the General Meeting:
1st Chairman: Dr. Claudio Cinquemani (right)
Second President: Frauke Delius (left)
Treasurer: Carina Cinquemani (centre)
Scientific Advisory Board
The Council may appoint an advisory committee. The task of the Advisory Committee is to advise the Committee on important membership issues. The Advisory Board may also invite experts from outside the Association to participate in its meetings. Members of the Board shall have the right to participate in the meetings of the Advisory Committee. Each member of the Advisory Committee shall be elected for the duration of the Committee’s term of office. The Scientific Advisory Committee is presented below:
PD Dr. med. Birgit Assmann, specialist in neuropediatrics at the Centre for Paediatrics and Youth Medicine at the University Hospital Heidelberg.
Dr. Kathrin Jeltsch, scientist of the clinical research group at the Dietmar Hopp Metabolism Center Heidelberg
Dr. Ilker Karaca, scientist, project manager for cell therapy in Cellex, Cologne
Prof. Dr. Anna Nickisch-Hartfiel, Biotechnology, Chemistry Department of the Niederrhein University of Applied Sciences, Krefeld.
Our goals as a non-profit association
SUPPORT – We want to provide support and assistance to assist everyday life for families effected and provide them with a future, which is often uncertain.
COLLECTION – Coordinated collection and provision of knowledge and information should accelerate the research progress and treatment.
CONTACTS – We are building a network for affected families, therapists, doctors and scientists.
Promote DIAGNOSIS and BASIC Research – minimizing undiagnosed cases and researching mechanisms for enzyme deficiency for possible therapies.
HELP – We want to work against a disadvantaged life by raising awareness of this rare disease and raising awareness about what is special about our children. This arouses interest in their individuality and in a creative approach to them.
Further information and a donation and membership application are available in the following leaflet:
Choose from several alternatives to support us:
Through our partner „WeCanHelp“ you can easily make a donation. Website: wecanhelp.de
Donation via PayPal, SEPA, Visa/Master-Card or Sofort transfer. A donation receipt can be requested directly during the process.
Classic bank transfer to our donation account:
IBAN: DE14 5086 3513 0005 1710 24
Membership application / donation form:
Download the form, fill it in and send it to us – we’ll do the rest!
>>> Download Flyer Version.20170906
Please register for a study of natural history of Neurotransmitter Related Disorders – including SSADH
Find more information here:
SSADH-Defizit e.V. founded with great success
We had the chance to share experiences with 21 participants and to discuss the imminent establishment of the Association in familiar atmosphere with coffee and biscuits.
Our Constituent Assembly
After Dr. Claudio Cinquemani explained the idea and the statutes of the Association, we discussed together contents and the statute and the rules for the member fees. As the name of the Association we opted for:
Association for the rare metabolic disorder of the neurotransmitter GABA
Database for SSADH patients
Dr. Pearl would like to thank all of those who have filled the paper version of the SSADH questionnaire and asks for filling out the online survey as well. The latter helps him establish a SSADH database and use it for research into the disease as well as for possible therapies. These studies are conducted at the children’s Hospital of Boston/Massachusetts
The survey takes about 15 minutes if you have already the results of genetic tests such as MRI, EKG handy.
If you have any questions, please contact us at
We are fortunate that fantastic treatment programs for different areas are offered in the city in which we live. The research and consulting center for assisted speech systems, based at the University of Cologne, helps people with impaired spoken language by supporting communication techniques:
We´ve been participating the program and have a very good impression. Additionally, there is the program „on-your-legs“ is at the University Hospital in Cologne which provides rehabilitation for childrine with reduced mobility. Our son has made great progress with the very professional working team of doctors and therapists!