Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era

Janeiro, Patrícia; Jotta, Rita; Ramos, Ruben; Florindo, Cristina; Ventura, Fátima V.; Vilarinho, Laura; Almeida, Isabel Tavares de; Gaspar, Ana

doi:10.1007/s00431-018-03315-2

Cited by 20 publications

(23 citation statements)

References 24 publications

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“…In patients with dramatic reductions in enzymatic activity, hypoglycemia and cardiac symptoms could not be prevented despite early initiation of treatment following detection by NBS [31]. Of concern are findings from recent studies showing that despite NBS and prompt incorporation of nutritional management, early and serious manifestations, including death, can still occur [14]. Constant vigilance and subsequent recognition of key clinical manifestations are pivotal if rapid detection of any crises and implementation of appropriate management are to be achieved.…”

Section: Detection Of Faodmentioning

confidence: 99%

“…Moreover, identifying a genotype-phenotype link is not always clear, making it difficult to predict outcomes (Table 2) [22]. However, it does appear that certain genetic variants, namely LC-FAOD, are associated with a greater propensity for decompensation events in affected individuals [14].…”

Section: Key Conclusionmentioning

confidence: 99%

“…FAOD are a group of rare, autosomal recessive, metabolic disorders stemming from variants in genes encoding any of 20 enzymes and transport proteins utilized in fatty acid metabolism and transport via the carnitine shuttle for subsequent energy production by β-oxidation within the mitochondria [9,11,12], often with serious and potentially life-threatening consequences [13][14][15].…”

Section: Introduction To Faodmentioning

confidence: 99%

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Clinical manifestations and management of fatty acid oxidation disorders

Merritt

MacLeod

Jurecka

et al. 2020

Rev Endocr Metab Disord

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Fatty acid oxidation disorders (FAOD) are a group of rare, autosomal recessive, metabolic disorders caused by variants of the genes for the enzymes and proteins involved in the transport and metabolism of fatty acids in the mitochondria. Those affected by FAOD are unable to convert fatty acids into tricarboxylic acid cycle intermediates such as acetyl-coenzyme A, resulting in decreased adenosine triphosphate and glucose for use as energy in a variety of high-energy–requiring organ systems. Signs and symptoms may manifest in infants but often also appear in adolescents or adults during times of increased metabolic demand, such as fasting, physiologic stress, and prolonged exercise. Patients with FAOD present with a highly heterogeneous clinical spectrum. The most common clinical presentations include hypoketotic hypoglycemia, liver dysfunction, cardiomyopathy, rhabdomyolysis, and skeletal myopathy, as well as peripheral neuropathy and retinopathy in some subtypes. Despite efforts to detect FAOD through newborn screening and manage patients early, symptom onset can be sudden and serious, even resulting in death. Therefore, it is critical to identify quickly and accurately the key signs and symptoms of patients with FAOD to manage metabolic decompensations and prevent serious comorbidities.

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Section: Detection Of Faodmentioning

confidence: 99%

Section: Key Conclusionmentioning

confidence: 99%

Section: Introduction To Faodmentioning

confidence: 99%

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Clinical manifestations and management of fatty acid oxidation disorders

Merritt

MacLeod

Jurecka

et al. 2020

Rev Endocr Metab Disord

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“…CPT I deficiency, for which isolated patients very rarely, have been characterized, seems a disease predominantly of hepatic mitochondrial LCFA oxidation. It is described as hepatic and cardiac failure causing early death in newborns (Janeiro et al, 2019[ 7 ]). Nonetheless, CPT I deficiency was also described in an adult, recently (Phowthongkum et al, 2019[ 12 ]).…”

Section: Discussionmentioning

confidence: 99%

Severe rhabdomyolysis in homozygote carnitine palmitoyltransferase II deficiency

Schnedl¹,

Enko

Mangge

2020

EXCLI Journal; 19:Doc1309; ISSN 1611-2156

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“…voie de b-OAG. Dans de nombreux cas, les nouveau-nés dépistés comme positifs sont en fait asymptomatiques et il est impossible de prévoir avec certitude l'évolution de leur condition au cours du temps[24]. L'expression phénotypique de ces maladies ne repose en effet pas uniquement sur la présence d'altérations génétiques.…”

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Anomalies de la β-oxydation mitochondriale des acides gras

Bastin

Djouadi

2019

Med Sci (Paris)

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Certaines anomalies de la β-oxydation mitochondriale des acides gras (β-OAG) apparaissent jouer un rôle majeur dans la pathogenèse de plusieurs maladies communes (diabète, obésité, maladies cardiaques). Des déficits génétiques touchant la β-OAG sont également à l’origine d’un ensemble de maladies rares de phénotypes très variables, allant de défaillances cardio-hépatiques fatales chez le nourrisson à des myopathies chez l’adulte. Ces différentes pathologies sont révélatrices du rôle clé de la β-OAG dans plusieurs organes à forts besoins en ATP (cœur, muscle, foie, rein). Des données récentes suggèrent que la β-OAG participerait également à d’autres fonctions complexes (modifications de la chromatine, contrôle de l’activité de cellules souches, devenir de cellules cancéreuses).

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Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era

Cited by 20 publications

References 24 publications

Clinical manifestations and management of fatty acid oxidation disorders

Clinical manifestations and management of fatty acid oxidation disorders

Severe rhabdomyolysis in homozygote carnitine palmitoyltransferase II deficiency

Anomalies de la β-oxydation mitochondriale des acides gras

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