Literature DB >> 19926542

Fatty acid oxidation disorders: maternal health and neonatal outcomes.

R Scott Rector1, Jamal A Ibdah.   

Abstract

Mitochondrial fatty acid beta-oxidation (FAO) disorders have become an important group of inherited metabolic disorders causing serious pediatric and maternal morbidity and mortality. More than 20 defects affecting beta-oxidation have been discovered, characterized by distinct enzyme or transporter deficiencies. This growing number of FAO disorders covers a wide spectrum of phenotypes and are characterized by a wide array of clinical presentations. We discuss the major mitochondrial FAO disorders and the impact they have on maternal health and neonatal outcomes; diagnostic tools and the value of genetic screening are reviewed; and current therapeutic approaches and management strategies are discussed. Copyright 2009 Elsevier Ltd. All rights reserved.

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Year:  2009        PMID： 19926542     DOI： 10.1016/j.siny.2009.10.006

Source DB:  PubMed          Journal:  Semin Fetal Neonatal Med        ISSN： 1744-165X            Impact factor:   3.926


  6 in total

Review 1.  Acute Fatty Liver Disease of Pregnancy: Updates in Pathogenesis, Diagnosis, and Management.

Authors:  Joy Liu; Tara T Ghaziani; Jacqueline L Wolf
Journal:  Am J Gastroenterol       Date:  2017-03-14       Impact factor: 10.864

2.  PGC-1α overexpression results in increased hepatic fatty acid oxidation with reduced triacylglycerol accumulation and secretion.

Authors:  E Matthew Morris; Grace M E Meers; Frank W Booth; Kevin L Fritsche; Christopher D Hardin; John P Thyfault; Jamal A Ibdah
Journal:  Am J Physiol Gastrointest Liver Physiol       Date:  2012-08-16       Impact factor: 4.052

Review 3.  Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.

Authors:  Autumn L Fletcher; Mark E Pennesi; Cary O Harding; Richard G Weleber; Melanie B Gillingham
Journal:  Mol Genet Metab       Date:  2012-03-08       Impact factor: 4.797

4.  Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database.

Authors:  Chelsey Chaehee Lim; Jerry Vockley; Otobo Ujah; Russell S Kirby; Mathew J Edick; Susan A Berry; Georgianne L Arnold
Journal:  Mol Genet Metab Rep       Date:  2022-06-03

5.  Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A.

Authors:  Bradford D Gessner; Thalia Wood; Monique A Johnson; Carolyn Sue Richards; David M Koeller
Journal:  Genet Med       Date:  2016-01-28       Impact factor: 8.822

Review 6.  Coordinated Modulation of Energy Metabolism and Inflammation by Branched-Chain Amino Acids and Fatty Acids.

Authors:  Zhenhong Ye; Siyu Wang; Chunmei Zhang; Yue Zhao
Journal:  Front Endocrinol (Lausanne)       Date:  2020-09-08       Impact factor: 5.555
  6 in total

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