1) AADC Deficiency Guidelines now online!

The AADC deficiency guidelines for the diagnoses, treatment and other special situations are now available online ( We thank all participants and authors for this wonderful collaboration!


2) BH4 Deficiency Guidelines started

The next guidelines developed by members of the iNTD network ( will focus on BH4 deficiencies including PTPS, GTPCH, DHPR, SR and PCD deficiency. A new very international guideline group was established. This guideline group met for the first time on 01Feb2017 in Barcelona at the Hospital Sant Joan de Déu. Working groups were established and responsibilities were divided between group members. Tools for literature evaluation were explained, key questions were raised and timelines were set.


3) Marie Skłodowska-Curie application submitted

Under the lead of the team at the Hospital Sant Joan de Déu in Barcelona a proposal for a Marie

Skłodowska Curie (Innovative Training Networks) Call was submitted. The Innovative Training Networks (ITN) aim to train a new generation of creative, entrepreneurial and innovative early-stage researchers, able to face current and future challenges and to convert knowledge. Our proposal has the title “European Training Network in Neurotransmitter defects: a holistic approach towards the Research Training in Rare diseases”. Let´s keep fingers crossed.


4) COST Application rejected

Unfortunately, our COST application 2016 (European Cooperation in Science and Technology, ( was rejected, despite improved marks and positive comments.


5) iNTD registry statistics

Overview of disease distribution (as by 09.02.2017):

18 - fig 1

Total number: 136 patients


Participating partners (as by 09.02.2017):

18 - fig 2



The elaboration of this post has been financed by the project PI15/01082, as a part of the National Plan of I+D+I and co-financed by the ISCIII – General Deputy Direction for Evaluation and Development of Health Research – and the European Regional Development Fund (ERDF).