Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency

  title={Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency},
  author={Terry G. J. Derks and Catharina M. L. Touw and Graziela Schmitt Ribas and Giovana Brondani Biancini and Camila Simioni Vanzin and Giovanna Webster Negretto and Caroline Paula Mescka and Dirk-Jan Reijngoud and G. Peter A. Smit and Moacir Wajner and Carmen Regla Vargas},
  journal={Journal of Inherited Metabolic Disease},
The objective of this study was to test whether macromolecule oxidative damage and altered enzymatic antioxidative defenses occur in patients with medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency. We performed a cross-sectional observational study of in vivo parameters of lipid and protein oxidative damage and antioxidant defenses in asymptomatic, nonstressed, MCAD-deficient patients and healthy controls. Patients were subdivided into three groups based on therapy: patients without… 

Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role?

It is raised the interesting hypothesis that increased PDC-bound lipoic acid, synthesized from accumulated octanoic acid in MCAD, may affect the cellular antioxidant pool in MCADD.

Evidence that Oxidative Disbalance and Mitochondrial Dysfunction are Involved in the Pathophysiology of Fatty Acid Oxidation Disorders.

Mitochondrial fatty acid β-oxidation disorders (FAODs) are a group of about 20 diseases which are caused by specific mutations in genes that codify proteins or enzymes involved in the fatty acid

Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiency

The clinical, biochemical and genetic features of all ECHS1‐deficient patients described to date are examined and the secondary OXPHOS defects associated with E CHS1 deficiency are considered and their possible contribution to disease pathogenesis is discussed.

Transcriptome analysis suggests a compensatory role of the cofactors coenzyme A and NAD+ in medium-chain acyl-CoA dehydrogenase knockout mice

It is discussed how metabolic adaptations in the liver may contribute to robustness in MCAD-KO mice and potentially also in asymptomatic human subjects with a complete loss of MCAD activity.

[An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency].

Screening tests for genetic metabolic diseases are recommended for children who have unexplained metabolic acidosis and hypoglycemia and genetic analyses of the ACADM and ACADS genes are helpful for the diagnosis of medium- and short-chain acyl-CoA dehydrogenase deficiency.

DNA Damage and Oxidative Status of Full Term Babies Delivered by Spontaneous Vaginal Delivery and Caesarean Section

Objectives: At this study, it is aimed to research DNA damage and oxidative stress in infants with born timely normal spontaneous vaginal delivery (NSVD) and elective caesarean.Study Design: Healthy

Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency-GeneReviews®-NCBI Bookshelf

The prognosis is excellent once the diagnosis is established and frequent feedings are instituted to avoid any prolonged period of fasting.



Oxidative Stress Parameters in Urine from Patients with Disorders of Propionate Metabolism: a Beneficial Effect of l-Carnitine Supplementation

Treatment with low protein diet and l-Carnitine significantly reduces urinary biomarkers of protein and lipid oxidative damage in patients with disorders of propionate metabolism and that l-carnitines supplementation may be specially involved in this protection.

Oxidative stress induction by cis-4-decenoic acid: Relevance for MCAD deficiency

The data indicate that oxidative stress is induced by cDA in rat brain in vitro and that oxidative damage might be involved in the pathophysiology of the encephalopathy in MCADD.

Profiling of oxidative stress in patients with inborn errors of metabolism.

Tissue Carnitine Homeostasis in Very-Long-Chain Acyl-CoA Dehydrogenase–Deficient Mice

The results demonstrate different tissue-specific long-chain acylcarnitine profiles in response to various stressors, which may be of importance with respect to the heterogeneous clinical manifestations of VLCAD deficiency in humans.

Mitochondrial function and toxicity: role of the B vitamin family on mitochondrial energy metabolism.

Fasting‐induced oxidative stress in very long chain acyl‐CoA dehydrogenase‐deficient mice

This study strongly suggests that liver damage in fatty acid oxidation defects is attributable to oxidative stress and generation of reactive oxygen species as a result of significant fat accumulation, and an MCT diet does not prevent hepatic damage during catabolism and metabolic derangement.

Diagnosis of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Lymphocytes and Liver by a Gas Chromatographic Method: The Effect of Oral Riboflavin Supplementation

One patient, who had died suddenly and unexpectedly at the age of 19 mo, was correctly diagnosed as MCAD-deficient, whereas five additional children who died of the sudden infant death syndrome showed normal activities.