fattyacidoxidation.com

Fatty Acid Oxidation disorders
International Registry

UMCU AMC

Goal: To improve outcome for patients with fatty acid oxidation disorders.

Method: Collecting data on leading signs and symptoms in patients with fatty acid oxidation disorders. This will facilitate research on improving therapeutic strategies by allowing sharing of key data. Participating medical specialists will get access to data via requests to the register.

Disorders:

OCTN2
Organic Cation Carnitine Transporter deficiency
CPT1
Carnitine Palmitoyl Transferase type 1 deficiency
CPT2
Carnitine Palmitoyl Transferase type 2 deficiency
VLCAD
Very Long Chain acyl-CoA Dehydrogenase deficiency
MTP/LCHAD
Mitochondrial Tri functional Protein deficiency / Long Chain Hydroxyacyl-CoA Dehydrogenase deficiency
MCAD
Medium Chain acyl-CoA Dehydrogenase deficiency

Why an international FAO registry?

Fatty acid oxidation disorders (FAO) are rare disorders, which have been incorporated in many newborn screening programs worldwide, but not in all countries. Early recognition and initiation of treatment including dietary strategies have improved outcome significantly, however, still patients suffer from complaints for which yet no treatment exists.

This registry aims to improve knowledge on the incidence of these rare disorders and to facilitate access to patients with specific signs and symptoms worldwide.

 

For more information: .