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1.
Eur J Paediatr Neurol ; 49: 60-65, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38377647

RESUMEN

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.


Asunto(s)
Acil-CoA Deshidrogenasa/deficiencia , Cardiomiopatías , Carnitina O-Palmitoiltransferasa/deficiencia , Errores Innatos del Metabolismo Lipídico , Errores Innatos del Metabolismo , Proteína Trifuncional Mitocondrial/deficiencia , Tamizaje Neonatal , Rabdomiólisis , Humanos , Recién Nacido , Estudios Retrospectivos , Masculino , Femenino , Tamizaje Neonatal/métodos , Errores Innatos del Metabolismo Lipídico/diagnóstico , Errores Innatos del Metabolismo Lipídico/complicaciones , Bélgica/epidemiología , Lactante , Síndromes Congénitos de Insuficiencia de la Médula Ósea/complicaciones , Síndromes Congénitos de Insuficiencia de la Médula Ósea/diagnóstico , Acil-CoA Deshidrogenasa de Cadena Larga/deficiencia , Ácidos Grasos/metabolismo , Preescolar , Enfermedades Musculares/diagnóstico , Niño , Miopatías Mitocondriales/diagnóstico , Miopatías Mitocondriales/complicaciones , Enfermedades Mitocondriales/diagnóstico , Enfermedades Mitocondriales/complicaciones , Enfermedades del Sistema Nervioso/etiología , Enfermedades del Sistema Nervioso/diagnóstico
2.
Clin Case Rep ; 8(1): 41-46, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31998483

RESUMEN

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.

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