Post‐mortem analysis for two prevalent β‐oxidation mutations in sudden infant death

  title={Post‐mortem analysis for two prevalent $\beta$‐oxidation mutations in sudden infant death},
  author={Zi Yang and Patrick E. Lantz and Jamal A. Ibdah},
  journal={Pediatrics International},
Background: Fatty acid oxidation disorders may cause sudden and unexpected infant death and are associated with the histological hallmark of hepatic steatosis. The goal of the present study was to assess the value of post‐mortem molecular analysis for medium‐chain acyl‐coenzyme A dehydrogenase (MCAD) and mitochondrial trifunctional protein (MTP) defects in unexplained sudden infant death (SID) associated with fatty infiltration of the liver. MCAD catalyzes the first step of medium‐chain fatty… 
Molecular Diagnostic Techniques in the Post-Mortem Investigation of Sudden Unexpected Infant Deaths: Current and Future Applications
Current and potential future molecular applications in the post-mortem investigation of SUDI/SIDS are highlighted, specifically focusing on the potential role of infection, as well as cardiac, neuropathological and metabolic findings that may be associated with, or increase the infant's susceptibility to, sudden unexpected death.
Medium-Chain Acyl-CoA Dehydrogenase Deficiency in an Infant with Dilated Cardiomyopathy
We report about an infant affected by dilated cardiomyopathy (CMP) in whom metabolic investigations evidenced medium-chain-acyl-CoA dehydrogenase deficiency (MCADD), that is one of three types of
Fatty acid oxidation disorders: maternal health and neonatal outcomes.
Genomic risk factors in sudden infant death syndrome
A systematic evaluation of studies linking central nervous system pathways, cardiac channelopathies, immune dysfunction, metabolism/energy pathways, and nicotine response to SIDS explores how the current information can be applied to aid in the assessment of the at risk infant population.
A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases.
Overall, molecular autopsies hold immense value to living family members and is motivation to explore new avenues in infant cohorts, but significantly fewer infant cases were resolved compared with cohorts of 1 to 45 years old.
Role of 3-Hydroxy Fatty Acid-Induced Hepatic Lipotoxicity in Acute Fatty Liver of Pregnancy
The mechanistic role of increased 3-hydroxy fatty acid in causing lipotoxicity to the liver and in inducing oxidative stress, mitochondrial dysfunction and hepatocyte lipoapoptosis in patients with LCHAD deficiency is discussed.
Metabolic Autopsy and Molecular Autopsy in Sudden Unexpected Death in Infancy
This chapter describes the basis of metabolic disease, introduces a recent study into sudden unexpected death in infancy from the perspective of “functional autopsy,” and discusses several case reports from the field of forensic science.
Systems-level perspective of sudden infant death syndrome
An integrated WikiPathways model for SIDS susceptibility that includes associated cell systems, signaling pathways, genetics, and animal phenotypes is presented and can improve as a wiki-based, community curation project.
Sudden infant and perinatal unexplained death: are we moving forward yet?
  • G. Ottaviani
  • Medicine
    Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology
  • 2011


Postmortem screening for fatty acid oxidation disorders by analysis of Guthrie cards with tandem mass spectrometry in sudden unexpected death in infancy.
Tandem mass spectrometry blood acylcarnitine analysis of Guthrie card blood spots was performed for the detection of fatty acid oxidation disorders (FOD) in cases of sudden unexpected death in infancy (SUDI).
Mitochondrial trifunctional protein defects: molecular basis and novel therapeutic approaches.
It is shown that the transactivator of transcription (TAT) peptide from the human immunodeficiency virus can deliver proteins to mitochondria and the fusion protein can cross the placenta and was detectable in the fetus and newborn pups.
Prospective screening for pediatric mitochondrial trifunctional protein defects in pregnancies complicated by liver disease.
The association between AFLP and the E474Q mutation in the fetus is significant and Screening newborns for this mutation in pregnancies complicated by AFLP could allow early diagnosis and treatment in newborns.
Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death.
It is shown that intact mitochondrial long chain fatty acid oxidation is essential for fetal development and for survival after birth and that intact MTP alpha and beta subunits are essential for mouse survival.
Frequency of Medium-Chain Acyl-CoA Dehydrogenase Deficiency G-985 Mutation in Sudden Infant Death Syndrome
It is concluded that the specific MCad deficiency mutation G-985 is not strongly associated with SIDS and that MCAD deficiency probably does not make a significant contribution to the etiology of SIDS.
Maternal Acute Fatty Liver of Pregnancy Associated with Fetal Trifunctional Protein Deficiency: Molecular Characterization of a Novel Maternal Mutant Allele
An initial delineation of the R524Stop mutation provides evidence of the heterogeneity of genetic defects responsible for TFP deficiency and AFLP.
Fatty acid oxidation disorders.
The normal process of mitochondrial fatty acid beta-oxidation is addressed and the clinical, metabolic, and molecular aspects of more than 20 known inherited diseases of this pathway that have been described to date are discussed.