CPT 2 deficiency; LCHAD deficiency; MCAD deficiency; Mitochondrial fatty acid oxidation disorders; MTP deficiency; VLCAD deficiency; Pediatrics, Perinatology and Child Health; Neurology (clinical); General Medicine
Abstract :
[en] Fatty acid oxidation (FAO) disorders are autosomal recessive genetic disorders affecting either the transport or the oxidation of fatty acids. Acute symptoms arise during prolonged fasting, intercurrent infections, or intense physical activity. Metabolic crises are characterized by alteration of consciousness, hypoglycemic coma, hepatomegaly, cardiomegaly, arrhythmias, rhabdomyolysis, and can lead to death. In this retrospective and multicentric study, the data of 54 patients with FAO disorders were collected. Overall, 35 patients (64.8%) were diagnosed after newborn screening (NBS), 17 patients on clinical presentation (31.5%), and two patients after family screening (3.7%). Deficiencies identified included medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (75.9%), very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (11.1%), long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency (3.7%), mitochondrial trifunctional protein (MTP) deficiency (1.8%), and carnitine palmitoyltransferase 2 (CPT 2) deficiency (7.4%). The NBS results of 25 patients were reviewed and the neurological outcome of this population was compared with that of the patients who were diagnosed on clinical presentation. This article sought to provide a comprehensive overview of how NBS implementation in Southern Belgium has dramatically improved the neurological outcome of patients with FAO disorders by preventing metabolic crises and death. Further investigations are needed to better understand the physiopathology of long-term complications in order to improve the quality of life of patients and to ensure optimal management.
Laeremans, Hilde; Centre de Dépistage Néonatal de l'ULB, Brussels, Belgium
Boemer, François ; Université de Liège - ULiège > Département de pharmacie > Chimie médicale
Marie, Sandrine; Laboratoire des Maladies Métaboliques Héréditaires/Biochimie Génétique et Centre de Dépistage Néonatal, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium
Vincent, Marie-Françoise; Laboratoire des Maladies Métaboliques Héréditaires/Biochimie Génétique et Centre de Dépistage Néonatal, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium
Dewulf, Joseph P. ; Laboratoire des Maladies Métaboliques Héréditaires/Biochimie Génétique et Centre de Dépistage Néonatal, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium
Debray, François-Guillaume ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Maladies métaboliques d'origine génétique
De Laet, Corinne; Nutrition and Metabolism Unit, Department of Pediatrics, University Children's Hospital Queen Fabiola, Brussels, Belgium
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