Luc Regal

Dr Luc Régal studied medicine at the KU Leuven. After his training as a neurologist at the UZ Leuven, he specialised further in paediatric neurology at the UZ Gent. During this specialisation he was also trained in metabolic medicine and was responsible for paediatric metabolic diseases at UZ Leuven for 7 years. Since January 2015 he has been working as a paediatric neurologist and metabolic physician at UZ Brussel and as a metabolic physician at HUDERF. Since July 2018 he started consultations movement disorders in children. Dr Luc Régal is currently finalising his PhD: “The role of PREPL in the hypotonia-cystinuria syndrome”. He has 31 publications in Pubmed and has given talks at international and national congresses. His scientific interests are in neurogenetics and inherited metabolic diseases, especially PREPL deficiency and Prader-Willi syndrome. He described the first patient with isolated PREPL deficiency and was involved in the discovery of “Leukoencephalopathy with Thalamus and Brainstem involvement and high Lactate” and the discovery of a mitochondrial translation defect due to mutations in GTPBP3. He also described autosomal recessive ataxia caused by mutations in PEX 10, a gene that until then was only known to cause lethal peroxisomal defects.