A case report of a first pregnant woman with late-onset multiple acyl-CoA dehydrogenase deficiency in Saudi Arabia

Abstract

Background: Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria II, is a rare autosomal recessively inherited disorder of inborn error of metabolism. It can mainly be presented in three phenotypes: severe neonatal onset with a dysmorphic feature, neonatal-onset without dysmorphic features, and less severe mild late-onset phenotype. Case presentation: A 34-year-old Saudi female previously healthy, Para 4, with severe metabolic acidosis, rhabdomyolysis intrapartum was presented to us. Her previous pregnancy history and deliveries were unremarkable; she has three healthy sons. Since the beginning of this pregnancy, she complained of fatigability and muscle weakness which was progressive with time. At 36 weeks of gestation, she was presented to the emergency room with labor pain. She deteriorated rapidly with significant drowsiness. Her arterial blood gas showed severe metabolic acidosis with a high anion gap and normal lactate. She was intubated and underwent emergency cesarean delivery under general anesthesia. After the operation, she was sent to the intensive care unit. She passed away after a few days. A molecular test confirmed the diagnosis of MADD. Conclusion: First, late-onset MADD is a rare, underdiagnosed disease in adults. Second, the biochemical diagnosis of late-onset MADD is challenging as it mimics medium chain acyl CoA dehydrogenase deficiency which makes the molecular diagnosis essential for diagnosis. Third, for any unexplained myopathy, cardiac dysfunction, encephalopathy, or metabolic acidosis, metabolic disorders must be considered as early consultation with metabolic service.