RESUMO
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.
Assuntos
Acil-CoA Desidrogenase/deficiência , Cardiomiopatias , Carnitina O-Palmitoiltransferase/deficiência , Erros Inatos do Metabolismo Lipídico , Erros Inatos do Metabolismo , Proteína Mitocondrial Trifuncional/deficiência , Triagem Neonatal , Rabdomiólise , Humanos , Recém-Nascido , Estudos Retrospectivos , Masculino , Feminino , Triagem Neonatal/métodos , Erros Inatos do Metabolismo Lipídico/diagnóstico , Erros Inatos do Metabolismo Lipídico/complicações , Bélgica/epidemiologia , Lactente , Síndrome Congênita de Insuficiência da Medula Óssea/complicações , Síndrome Congênita de Insuficiência da Medula Óssea/diagnóstico , Acil-CoA Desidrogenase de Cadeia Longa/deficiência , Ácidos Graxos/metabolismo , Pré-Escolar , Doenças Musculares/diagnóstico , Criança , Miopatias Mitocondriais/diagnóstico , Miopatias Mitocondriais/complicações , Doenças Mitocondriais/diagnóstico , Doenças Mitocondriais/complicações , Doenças do Sistema Nervoso/etiologia , Doenças do Sistema Nervoso/diagnósticoRESUMO
vWFpp/ADAMTS13 ratio should be further studied as a useful marker for diagnosis of thrombotic microangiopathy postliver transplantation. Immunosuppressive regimen modification and plasma supplementation can lead to recovery.
