Case Report
JBCGenetics. 2022; 5(2):

A case report of a first pregnant woman with late-onset Multiple Acyl-CoA Dehydrogenase Deficiency in Saudi Arabia

Authors: Shirin Al Sharfa, Rawda Sunbul, Zainab Al Masseri, Moeenaldeen AlSayed, Zuhair N. Al-Hassnan.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1630496130

Abstract

Background: 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 years old Saudi female previously healthy, Para 4, with severe metabolic acidosis, rhabdomyolysis intra-partum was presented to us. Her previous pregnancy history and deliveries were unremarkable; she has 3 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 emergency room with labour 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 caesarean delivery under General anaesthesia. 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 Co. A Dehydrogenase Deficiency (MCAD deficiency) makes the molecular diagnosis essential for diagnosis. Third, for any unexplained myopathy, cardiac dysfunction, encephalopathy, or metabolic acidosis, metabolic disorders must be considered early consultation with metabolic service.

Keywords:   Case report, pregnant, late-onset MADD, unexplained Myopathy


© Copyright: Author(s)

A case report of a first pregnant woman with late-onset Multiple Acyl-CoA Dehydrogenase Deficiency in Saudi Arabia


Authors
Shirin Al Sharfa
Division of Medical Genetics, Department of Pediatrics, Qatif Central Hospital, Qatif, Saudi Arabia
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Rawda Sunbul
Division of Medical Genetics, Department of Pediatrics, Qatif Central Hospital, Qatif, Saudi Arabia
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Zainab Al Masseri
Division of Medical Genetics, Department of Pediatrics, Qatif Central Hospital, Qatif, Saudi Arabia
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Moeenaldeen AlSayed
Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia
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Zuhair N Al-Hassnan
Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia
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Correspondence to:
. Division of Medical Genetics, Department of Pediatrics, Qatif Central Hospital, Qatif, Saudi Arabia; Dr.shirin-alsharfa@outlook.com

Publication history
Received 01 Sep 2021
Accepted 10 Apr 2022
Published online 08 Aug 2022

How to cite this article

Pubmed Style

Sharfa SA, Sunbul R, Masseri ZA, AlSayed M, Al-Hassnan ZN. A case report of a first pregnant woman with late-onset Multiple Acyl-CoA Dehydrogenase Deficiency in Saudi Arabia. JBCGenetics. Online First: 08 Aug, 2022. doi:10.24911/JBCGenetics/183-1630496130


Web Style

Sharfa SA, Sunbul R, Masseri ZA, AlSayed M, Al-Hassnan ZN. A case report of a first pregnant woman with late-onset Multiple Acyl-CoA Dehydrogenase Deficiency in Saudi Arabia. https://www.jbcgenetics.com//?mno=118746 [Access: October 02, 2022]. doi:10.24911/JBCGenetics/183-1630496130


AMA (American Medical Association) Style

Sharfa SA, Sunbul R, Masseri ZA, AlSayed M, Al-Hassnan ZN. A case report of a first pregnant woman with late-onset Multiple Acyl-CoA Dehydrogenase Deficiency in Saudi Arabia. JBCGenetics. Online First: 08 Aug, 2022. doi:10.24911/JBCGenetics/183-1630496130


Vancouver/ICMJE Style

Sharfa SA, Sunbul R, Masseri ZA, AlSayed M, Al-Hassnan ZN. A case report of a first pregnant woman with late-onset Multiple Acyl-CoA Dehydrogenase Deficiency in Saudi Arabia. JBCGenetics, [cited October 02, 2022]; Online First: 08 Aug, 2022. doi:10.24911/JBCGenetics/183-1630496130


Harvard Style

Sharfa, S. A., Sunbul, . R., Masseri, . Z. A., AlSayed, . M. & Al-Hassnan, . Z. N. (2022) A case report of a first pregnant woman with late-onset Multiple Acyl-CoA Dehydrogenase Deficiency in Saudi Arabia. JBCGenetics, Online First: 08 Aug, 2022. doi:10.24911/JBCGenetics/183-1630496130


Turabian Style

Sharfa, Shirin Al, Rawda Sunbul, Zainab Al Masseri, Moeenaldeen AlSayed, and Zuhair N. Al-Hassnan. 2022. A case report of a first pregnant woman with late-onset Multiple Acyl-CoA Dehydrogenase Deficiency in Saudi Arabia. Journal of Biochemical and Clinical Genetics, Online First: 08 Aug, 2022. doi:10.24911/JBCGenetics/183-1630496130


Chicago Style

Sharfa, Shirin Al, Rawda Sunbul, Zainab Al Masseri, Moeenaldeen AlSayed, and Zuhair N. Al-Hassnan. "A case report of a first pregnant woman with late-onset Multiple Acyl-CoA Dehydrogenase Deficiency in Saudi Arabia." Journal of Biochemical and Clinical Genetics Online First: 08 Aug, 2022. doi:10.24911/JBCGenetics/183-1630496130


MLA (The Modern Language Association) Style

Sharfa, Shirin Al, Rawda Sunbul, Zainab Al Masseri, Moeenaldeen AlSayed, and Zuhair N. Al-Hassnan. "A case report of a first pregnant woman with late-onset Multiple Acyl-CoA Dehydrogenase Deficiency in Saudi Arabia." Journal of Biochemical and Clinical Genetics Online First: 08 Aug, 2022. Web. 02 Oct 2022 doi:10.24911/JBCGenetics/183-1630496130


APA (American Psychological Association) Style

Sharfa, S. A., Sunbul, . R., Masseri, . Z. A., AlSayed, . M. & Al-Hassnan, . Z. N. (2022) A case report of a first pregnant woman with late-onset Multiple Acyl-CoA Dehydrogenase Deficiency in Saudi Arabia. Journal of Biochemical and Clinical Genetics, Online First: 08 Aug, 2022. doi:10.24911/JBCGenetics/183-1630496130


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