Molecular genetics and metabolism reports · 2026
Transient abnormal acylcarnitine profile in newborn screening mimicking multiple acyl-Coenzyme A dehydrogenase deficiency associated with maternal sertraline use.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Barbetti Rebecca, Coleman Kate, Fraser Louise, Demetriou Kalliope, Jayadiwangsa Elaine, Bratkovic Drago, Siu Carol Wai-Kwan
Аннотация
BACKGROUND: Multiple acyl-Coenzyme A dehydrogenase deficiency (MADD) is an inborn error of metabolism affecting fatty acid, amino acid and choline oxidation and is included in newborn screening in Australia. Recent reports describe adults with clinical and biochemical features of MADD, but negative genetic findings, associated with sertraline use.
AIM: To describe a well newborn found to have a transient MADD-like biochemical pattern on newborn screen analysis, attributed to maternal sertraline use.
RESULTS: The newborn was delivered via semi elective C-section at term and was well at delivery, with age-appropriate growth percentiles. The mother had been taking sertraline throughout pregnancy and at delivery. Newborn screen analysis on day 2 showed elevation in multiple acylcarnitines (C5DC, C6, C8, C10 and C14:1), suggestive of MADD. The neonate remained well post-delivery and blood glucose and lactate levels at 1 and 4 h of age were normal.Repeat acylcarnitine profile on day 5 of life showed improving values. Urine organic acids showed mild elevation of 2-hydroxyglutarate, supporting the MADD-like biochemical pattern. By day 12 of life, the acylcarnitines had normalised. Extensive gene panel analysis, including ETFA, ETFB, and ETFDH, identified no variants of clinical significance.
CONCLUSION: Maternal sertraline use is a potential cause of a transient neonatal MADD-like biochemical pattern. Such medication-related effects should be considered when reviewing the possible aetiology of newborn screen results suggestive of MADD.
AIM: To describe a well newborn found to have a transient MADD-like biochemical pattern on newborn screen analysis, attributed to maternal sertraline use.
RESULTS: The newborn was delivered via semi elective C-section at term and was well at delivery, with age-appropriate growth percentiles. The mother had been taking sertraline throughout pregnancy and at delivery. Newborn screen analysis on day 2 showed elevation in multiple acylcarnitines (C5DC, C6, C8, C10 and C14:1), suggestive of MADD. The neonate remained well post-delivery and blood glucose and lactate levels at 1 and 4 h of age were normal.Repeat acylcarnitine profile on day 5 of life showed improving values. Urine organic acids showed mild elevation of 2-hydroxyglutarate, supporting the MADD-like biochemical pattern. By day 12 of life, the acylcarnitines had normalised. Extensive gene panel analysis, including ETFA, ETFB, and ETFDH, identified no variants of clinical significance.
CONCLUSION: Maternal sertraline use is a potential cause of a transient neonatal MADD-like biochemical pattern. Such medication-related effects should be considered when reviewing the possible aetiology of newborn screen results suggestive of MADD.