Targeted gene under study:

OMIM #613933


We are currently looking to include patients with bi-allelic variants in ACACA gene. We have already gathered 7 patients presenting global developmental delay and progressive lower limb spasticity along with microcephaly, polymicrogyria and epilepsy. For one of them, we demonstrated decreased protein expression in 3 cell types along with disturbed lipidomic profile and protein acetylation.

In vitro analysis are ongoing to evaluate ACC1 activity in vitro and to elucidate intra-cellular consequences secondary to the metabolic defect.

Coordinating clinicians

Tanguy Demaret, MD, PhD –

Isabelle Maystadt, MD, PhD


Centre de Génétique Humaine, Institut de Pathologie et Génétique, Gosselies, Belgium

Specific requirements beyond clinical data and genotype data sharing:

1- Re-analysis of DNA samples: No

2- Resampling of patients: No, maybe if the pathogenicity of the variant is dubious

3- Linked to a translational/basic research project: Yes (CARD lab, UCLouvain, Brussels, Belgium)