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Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.
Eur J Pediatr. 2019 Mar; 178(3):387-394.EJ

Abstract

Fatty acid β-oxidation (FAO) disorders have a wide variety of symptoms, not usually evident between episodes of acute decompensations. Cardiac involvement is frequent, and severe ventricular arrhythmias are suspected of causing sudden death. Expanded newborn screening (ENS) for these disorders, hopefully, contribute to prevent potentially acute life-threatening events. In order to characterize acute decompensations observed in FAO-deficient cases identified by ENS, a retrospective analysis was performed, covering a period of 9 years. Demographic data, number/type of acute decompensations, treatment, and follow-up were considered. Eighty-three clinical charts, including 66 medium-chain acyl-CoA dehydrogenase deficiency (MCADD), 5 carnitine-uptake deficiency (CUD), 3 carnitine palmitoyltransferase I and II (CPT I/II) deficiency, 5 very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), and 4 multiple acyl-CoA dehydrogenase deficiency (MADD) cases were reviewed. Nineteen patients had acute decompensations (1 CPT I, 1 CPT II, 3 MADD, 14 MCADD). Six patients developed symptoms previously to ENS diagnosis. Severe clinical manifestations included multiple organ failure, liver failure, heart failure, and sudden death. Long-chain FAO disorders had the highest number of decompensations per patient.

Conclusion:

Despite earlier diagnosis by ENS, sudden deaths were not avoided and acute decompensations with severe clinical manifestations still occur as well. What is Known: • Severe ventricular arrhythmias are suspected to cause unexpected death in FAO disorders. • Neonatal screening intends to reduce the incidence of severe metabolic crisis and death. What is New: • Acute severe decompensations occurred in FAO disorders diagnosed through neonatal screening. • Sudden deaths were not avoided by starting treatment precociously.

Authors+Show Affiliations

Centro de Referência de Doenças Hereditárias do Metabolismo, Departamento de Pediatria Médica, Hospital de Santa Maria - CHULN, Av. Prof. Egas Moniz, 1649-035, Lisbon, Portugal. patricia.janeiro@gmail.com.Serviço de Pediatria Médica, Departamento de Pediatria, Hospital de Santa Maria - CHULN, Av. Prof. Egas Moniz, 1649-035, Lisbon, Portugal.Laboratório de Metabolismos e Genética, Faculdade de Farmácia da Universidade de Lisboa, Av. Prof. Gama Pinto Edificio F, 1649-099, Lisbon, Portugal.Laboratório de Metabolismos e Genética, Faculdade de Farmácia da Universidade de Lisboa, Av. Prof. Gama Pinto Edificio F, 1649-099, Lisbon, Portugal.Laboratório de Metabolismos e Genética, Faculdade de Farmácia da Universidade de Lisboa, Av. Prof. Gama Pinto Edificio F, 1649-099, Lisbon, Portugal.Unidade de Rastreio Neonatal Metabolismo e Genética, Departamento de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo Jorge, Rua Alexandre Herculano 321, 4000-055, Porto, Portugal.Laboratório de Metabolismos e Genética, Faculdade de Farmácia da Universidade de Lisboa, Av. Prof. Gama Pinto Edificio F, 1649-099, Lisbon, Portugal.Centro de Referência de Doenças Hereditárias do Metabolismo, Departamento de Pediatria Médica, Hospital de Santa Maria - CHULN, Av. Prof. Egas Moniz, 1649-035, Lisbon, Portugal.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

30617651

Citation

Janeiro, Patrícia, et al. "Follow-up of Fatty Acid Β-oxidation Disorders in Expanded Newborn Screening Era." European Journal of Pediatrics, vol. 178, no. 3, 2019, pp. 387-394.
Janeiro P, Jotta R, Ramos R, et al. Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era. Eur J Pediatr. 2019;178(3):387-394.
Janeiro, P., Jotta, R., Ramos, R., Florindo, C., Ventura, F. V., Vilarinho, L., Tavares de Almeida, I., & Gaspar, A. (2019). Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era. European Journal of Pediatrics, 178(3), 387-394. https://doi.org/10.1007/s00431-018-03315-2
Janeiro P, et al. Follow-up of Fatty Acid Β-oxidation Disorders in Expanded Newborn Screening Era. Eur J Pediatr. 2019;178(3):387-394. PubMed PMID: 30617651.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era. AU - Janeiro,Patrícia, AU - Jotta,Rita, AU - Ramos,Ruben, AU - Florindo,Cristina, AU - Ventura,Fátima V, AU - Vilarinho,Laura, AU - Tavares de Almeida,Isabel, AU - Gaspar,Ana, Y1 - 2019/01/07/ PY - 2018/10/20/received PY - 2018/12/26/accepted PY - 2018/12/21/revised PY - 2019/1/9/pubmed PY - 2019/4/9/medline PY - 2019/1/9/entrez KW - Acute decompensations KW - Fatty acid β-oxidation disorders KW - Sudden death SP - 387 EP - 394 JF - European journal of pediatrics JO - Eur. J. Pediatr. VL - 178 IS - 3 N2 - Fatty acid β-oxidation (FAO) disorders have a wide variety of symptoms, not usually evident between episodes of acute decompensations. Cardiac involvement is frequent, and severe ventricular arrhythmias are suspected of causing sudden death. Expanded newborn screening (ENS) for these disorders, hopefully, contribute to prevent potentially acute life-threatening events. In order to characterize acute decompensations observed in FAO-deficient cases identified by ENS, a retrospective analysis was performed, covering a period of 9 years. Demographic data, number/type of acute decompensations, treatment, and follow-up were considered. Eighty-three clinical charts, including 66 medium-chain acyl-CoA dehydrogenase deficiency (MCADD), 5 carnitine-uptake deficiency (CUD), 3 carnitine palmitoyltransferase I and II (CPT I/II) deficiency, 5 very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), and 4 multiple acyl-CoA dehydrogenase deficiency (MADD) cases were reviewed. Nineteen patients had acute decompensations (1 CPT I, 1 CPT II, 3 MADD, 14 MCADD). Six patients developed symptoms previously to ENS diagnosis. Severe clinical manifestations included multiple organ failure, liver failure, heart failure, and sudden death. Long-chain FAO disorders had the highest number of decompensations per patient.Conclusion: Despite earlier diagnosis by ENS, sudden deaths were not avoided and acute decompensations with severe clinical manifestations still occur as well. What is Known: • Severe ventricular arrhythmias are suspected to cause unexpected death in FAO disorders. • Neonatal screening intends to reduce the incidence of severe metabolic crisis and death. What is New: • Acute severe decompensations occurred in FAO disorders diagnosed through neonatal screening. • Sudden deaths were not avoided by starting treatment precociously. SN - 1432-1076 UR - https://www.unboundmedicine.com/medline/citation/30617651/Follow_up_of_fatty_acid_β_oxidation_disorders_in_expanded_newborn_screening_era_ L2 - https://dx.doi.org/10.1007/s00431-018-03315-2 DB - PRIME DP - Unbound Medicine ER -