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MCAD Deficiency

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1. Phosphorylation of MCAD selectively rescues PINK1 deficiencies in behavior and metabolism (PubMed)

Phosphorylation of MCAD selectively rescues PINK1 deficiencies in behavior and metabolism PTEN-induced putative kinase 1 (PINK1) is a mitochondria-targeted kinase whose mutations are a cause of Parkinson's disease. We set out to better understand PINK1's effects on mitochondrial proteins in vivo. Using an unbiased phosphoproteomic screen in Drosophila, we found that PINK1 mediates the phosphorylation of MCAD, a mitochondrial matrix protein critical to fatty acid metabolism. By mimicking (...) phosphorylation of this protein in a PINK1 null background, we restored PINK1 null's climbing, flight, thorax, and wing deficiencies. Owing to MCAD's role in fatty acid metabolism, we examined the metabolic profile of PINK1 null flies, where we uncovered significant disruptions in both acylcarnitines and amino acids. Some of these disruptions were rescued by phosphorylation of MCAD, consistent with MCAD's rescue of PINK1 null's organismal phenotypes. Our work validates and extends the current knowledge

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2018 Molecular biology of the cell

2. Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys (PubMed)

Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys Inherited metabolic diseases (IMD) are a large group of rare single-gene disorders that are typically diagnosed early in life. There are important evidence gaps related to the comparative effectiveness of therapies for IMD, which are in part due to challenges in conducting randomized controlled trials (RCTs (...) ) and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.This two-part study is registered with the Core Outcome Measures in Effectiveness Trials (COMET) initiative. Part 1 includes a rapid review and development of an evidence map to identify a comprehensive listing of outcomes reported in past studies of PKU and MCAD deficiency. The review follows established methods for knowledge synthesis, including a comprehensive search strategy, two stages of screening citations against inclusion/exclusion

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2017 Trials

3. MCAD Deficiency

MCAD Deficiency MCAD Deficiency Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 MCAD Deficiency MCAD Deficiency Aka: MCAD Deficiency (...) to notify responders in emergency VII. Complications Motor Delay Risk of intellectual VIII. References Images: Related links to external sites (from Bing) These images are a random sampling from a Bing search on the term "MCAD Deficiency." Click on the image (or right click) to open the source website in a new browser window. Related Studies (from Trip Database) Ontology: Medium-chain acyl-coenzyme A dehydrogenase deficiency (C0220710) Definition (NCI) A genetic disorder characterized by deficiency

2018 FP Notebook

4. Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T (PubMed)

Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder that leads to a defect in fatty acid oxidation. ACADM is the only candidate gene causing MCAD deficiency. A single nucleotide change, c.985A>G, occurring at exon 11 of the ACADM gene, is the most prevalent mutation. In this study, we report a Caucasian family with multiple MCADD individuals. DNA sequence analysis (...) of the ACADM gene performed in this family revealed that two family members showing mild MCADD symptoms share the same novel change in exon 11, c.1052C>T, resulting in a threonine-to-isoleucine change. The replacement is a nonconservative amino acid change that occurs in the C-terminal all-alpha domain of the MCAD protein. Here we report the finding of a novel missense mutation, c.1052C>T (p.Thr326Ile), in the ACADM gene. To our knowledge, c.1052C>T has not been previously reported in the literature

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2015 Case Reports in Genetics

5. Establishing core outcome sets for phenylketonuria (PKU) and medium-chain acyl-coa dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews, parent interviews and delphi surveys

Establishing core outcome sets for phenylketonuria (PKU) and medium-chain acyl-coa dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews, parent interviews and delphi surveys Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good faith and registered the review in PROSPERO. CRD bears no responsibility or liability for the content of this registration record, any associated files

2017 PROSPERO

6. Use of Ravictiâ„¢ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation

Use of Ravictiâ„¢ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation Use of Ravicti™ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before (...) adding more. Use of Ravicti™ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our for details. ClinicalTrials.gov Identifier: NCT01881984 Recruitment Status : Completed First Posted : June 20, 2013 Results First Posted : July 11, 2017 Last Update Posted : September 25, 2017 Sponsor

2013 Clinical Trials

7. Macro-AST: misleading finding in an adolescent with MCAD-deficiency. (PubMed)

Macro-AST: misleading finding in an adolescent with MCAD-deficiency. MCAD-deficiency is the most common inborn error of fatty acid oxidation now included in many newborn screening programms using MS/MS. During prolonged catabolic episodes, patients may suffer from metabolic decompensation with dysfunction of liver, skeletal- and heart muscle as well as brain. In anabolism, neither clinical symptoms nor biochemical signs of organ dysfunction occur.We report a female patient with MCAD-deficiency (...) in whom at the age of 11 years isolated AST-elevation was found without any clinical or biochemical signs of organ dysfunction. We showed by polyethylene glycol precipitation that macro-AST formation was responsible for this biochemical finding. AST was probably complexed with immunoglobulins possibly related to an allergic disposition. Macro-AST formation is not a special feature of MCAD-deficiency but rather a non-specific, coincidental finding which also occurs in healthy individuals. The general

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2012 BMC Gastroenterology

8. MCAD Deficiency

MCAD Deficiency MCAD Deficiency Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 MCAD Deficiency MCAD Deficiency Aka: MCAD Deficiency (...) to notify responders in emergency VII. Complications Motor Delay Risk of intellectual VIII. References Images: Related links to external sites (from Bing) These images are a random sampling from a Bing search on the term "MCAD Deficiency." Click on the image (or right click) to open the source website in a new browser window. Related Studies (from Trip Database) Ontology: Medium-chain acyl-coenzyme A dehydrogenase deficiency (C0220710) Definition (NCI) A genetic disorder characterized by deficiency

2015 FP Notebook

9. Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening (PubMed)

Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening Objective The aim of this study was to determine whether an expanded newborn screening programme, which is not yet available in Slovenia, would have detected the first two patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the country. Two novel ACADM mutations are also described. Methods Both patients were diagnosed clinically; follow-up involved analysis (...) of organic acids in urine, acylcarnitines in dried blood spots, and genetic analysis of ACADM. Cut-off values of acylcarnitines in newborns were established using analysis of 10,000 newborns in a pilot screening study. Results In both patients, analysis of the organic acids in urine showed a possible β-oxidation defect, while the specific elevation of acylcarnitines confirmed MCAD deficiency. Subsequent genetic analysis confirmed the diagnosis; both patients were compound heterozygotes, each with one

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2018 The Journal of international medical research

10. Diagnostic potential of stored dried blood spots for inborn errors of metabolism: a metabolic autopsy of medium-chain acyl-CoA dehydrogenase deficiency. (PubMed)

and for whom the cause of death was unknown were enrolled for the study. After correcting the C0 and C8 values assuming the hydrolysation of acylcarnitine in the stored DBSs, the corrected C8 value of one case just exceeded the cut-off level for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency screening. Genetic and biochemical analyses confirmed this patient to have MCAD deficiency.DBSs stored after newborn screening tests are a promising tool for metabolic autopsy. The appropriate compensation (...) Diagnostic potential of stored dried blood spots for inborn errors of metabolism: a metabolic autopsy of medium-chain acyl-CoA dehydrogenase deficiency. It is estimated that 1-5% of sudden infant death syndrome (SIDS) cases might be caused by undiagnosed inborn errors of metabolism (IEMs); however, the postmortem identification of IEMs remains difficult. This study aimed to evaluate the usefulness of dried blood spots (DBSs) stored after newborn screening tests as a metabolic autopsy

2018 Journal of Clinical Pathology

11. [A priori evaluation of the expansion of newborn screening to one or more inborn error(s) of metabolism using the technology of tandem mass spectrometry in the general population in France. Part 1: medium chain CoA dehydrogenase deficiency (MCADD)]

[A priori evaluation of the expansion of newborn screening to one or more inborn error(s) of metabolism using the technology of tandem mass spectrometry in the general population in France. Part 1: medium chain CoA dehydrogenase deficiency (MCADD)] Evaluation de l'extension du depistage neonatal a une ou plusieurs erreurs innees du metabolisme par spectrometrie de masse en tandem. 1er volet: deficit en MCAD [A priori evaluation of the expansion of newborn screening to one or more inborn error(s (...) ) of metabolism using the technology of tandem mass spectrometry in the general population in France. Part 1: medium chain CoA dehydrogenase deficiency (MCADD)] Evaluation de l'extension du depistage neonatal a une ou plusieurs erreurs innees du metabolisme par spectrometrie de masse en tandem. 1er volet: deficit en MCAD [A priori evaluation of the expansion of newborn screening to one or more inborn error(s) of metabolism using the technology of tandem mass spectrometry in the general population in France

2011 Health Technology Assessment (HTA) Database.

12. Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency (PubMed)

Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency Despite greatly improved morbidity and mortality among infants with medium-chain acyl-CoA dehydrogenase deficiency (MCAD) since the implementation of universal newborn screening (NBS), a population of neonates still becomes ill before their positive screen results are available. Exclusive breastfeeding is a proposed risk factor in this group. Since initial studies of MCAD NBS (...) , breastfeeding rates have increased substantially. In this study, we quantify the current risk of early decompensation in neonates with MCAD and identify factors associated with poor outcomes.We completed a retrospective analysis of neonates with MCAD referred to our center between 2010 and 2015.Of 46 infants with MCAD, 11 (23.9%) were symptomatic before the return of the NBS results. Four died or had cardiac arrest; the remaining seven had lethargy and hypoglycemia. All symptomatic patients were exclusively

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2016 Genetics in medicine : official journal of the American College of Medical Genetics

13. Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening. (PubMed)

Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common disorder of mitochondrial fatty acid β-oxidation and a target disease of newborn screening in many countries.We report on two siblings with mild MCAD deficiency associated with a novel splice site mutation in the ACADM gene. The younger sibling was detected by newborn screening, while (...) . Of three detected transcripts two result in truncated, non-functional MCAD proteins as reflected by the reduced octanoyl-CoA oxidation rate in both patients. In one patient a decrease of the octanoyl-CoA oxidation rate was found during a febrile infection indicating that missplicing may be temperature-sensitive.Our data indicate that the c.600-18G > A variant activates a cryptic splice site, which competes with the natural splice site. Due to only partial missplicing sufficient functional MCAD protein

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2015 BMC Medical Genetics

14. Prolonged QTc Interval in Association With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PubMed)

Prolonged QTc Interval in Association With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most common disorder of mitochondrial fatty acid oxidation. We report a term male infant who presented at 3 days of age with hypoglycemia, compensated metabolic acidosis, hypocalcemia, and prolonged QTc interval. Pregnancy was complicated by maternal premature atrial contractions and premature ventricular contractions. Prolongation (...) of the QTc interval resolved after correction of metabolic derangements. The newborn screen was suggestive for MCAD deficiency, a diagnosis that was confirmed on genetic analysis that showed homozygosity for the disease-associated missense A985G mutation in the ACADM gene. This is the first report of acquired prolonged QTc in a neonate with MCAD deficiency, and it suggests that MCAD deficiency should be considered in the differential diagnoses of acute neonatal illnesses associated

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2014 Pediatrics

15. Medium-Chain Acyl-CoA Dehydrogenase Deficiency (Diagnosis)

Medium-Chain Acyl-CoA Dehydrogenase Deficiency (Diagnosis) Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD): Background, Pathophysiology, Epidemiology Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache (...) =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvOTQ2NzU1LW92ZXJ2aWV3 processing > Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD) Updated: Aug 09, 2017 Author: Karl S Roth, MD; Chief Editor: Luis O Rohena, MD, FAAP, FACMG Share Email Print Feedback Close Sections Sections Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD) Overview Background The study of fatty acid metabolism gained importance during the 1970s when investigators and clinicians recognized patients who appeared to have genetic defects in this area. In 1973, carnitine

2014 eMedicine Pediatrics

16. Long-Chain Acyl CoA Dehydrogenase Deficiency (Diagnosis)

systems. J Cell Biochem . 2018 Jun 20. 19(9):7678-7686. . . Cecatto C, Godoy KDS, da Silva JC, Amaral AU, Wajner M. Disturbance of mitochondrial functions provoked by the major long-chain 3-hydroxylated fatty acids accumulating in MTP and LCHAD deficiencies in skeletal muscle. Toxicol In Vitro . 2016 Jun 29. 36:1-9. . . Amaral AU, Cecatto C, da Silva JC, Wajner A, Wajner M. Mechanistic bases of neurotoxicity provoked by fatty acids accumulating in MCAD and LCHAD deficiencies. J Inborn Errors (...) Long-Chain Acyl CoA Dehydrogenase Deficiency (Diagnosis) Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency: Background, Pathophysiology, Epidemiology Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache

2014 eMedicine Pediatrics

17. Medium-Chain Acyl-CoA Dehydrogenase Deficiency (Overview)

Medium-Chain Acyl-CoA Dehydrogenase Deficiency (Overview) Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD): Background, Pathophysiology, Epidemiology Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache (...) =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvOTQ2NzU1LW92ZXJ2aWV3 processing > Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD) Updated: Aug 09, 2017 Author: Karl S Roth, MD; Chief Editor: Luis O Rohena, MD, FAAP, FACMG Share Email Print Feedback Close Sections Sections Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD) Overview Background The study of fatty acid metabolism gained importance during the 1970s when investigators and clinicians recognized patients who appeared to have genetic defects in this area. In 1973, carnitine

2014 eMedicine Pediatrics

18. Long-Chain Acyl CoA Dehydrogenase Deficiency (Overview)

systems. J Cell Biochem . 2018 Jun 20. 19(9):7678-7686. . . Cecatto C, Godoy KDS, da Silva JC, Amaral AU, Wajner M. Disturbance of mitochondrial functions provoked by the major long-chain 3-hydroxylated fatty acids accumulating in MTP and LCHAD deficiencies in skeletal muscle. Toxicol In Vitro . 2016 Jun 29. 36:1-9. . . Amaral AU, Cecatto C, da Silva JC, Wajner A, Wajner M. Mechanistic bases of neurotoxicity provoked by fatty acids accumulating in MCAD and LCHAD deficiencies. J Inborn Errors (...) Long-Chain Acyl CoA Dehydrogenase Deficiency (Overview) Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency: Background, Pathophysiology, Epidemiology Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache

2014 eMedicine Pediatrics

19. Medium-Chain Acyl-CoA Dehydrogenase Deficiency (Treatment)

Medium-Chain Acyl-CoA Dehydrogenase Deficiency (Treatment) Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD) Treatment & Management: Medical Care, Consultations, Diet Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache (...) =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvOTQ2NzU1LXRyZWF0bWVudA== processing > Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD) Treatment & Management Updated: Aug 09, 2017 Author: Karl S Roth, MD; Chief Editor: Luis O Rohena, MD, FAAP, FACMG Share Email Print Feedback Close Sections Sections Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD) Treatment Medical Care A major component of the medical treatment of medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency is a diet that permits adequate nutrition and avoids any

2014 eMedicine Pediatrics

20. Long-Chain Acyl CoA Dehydrogenase Deficiency (Treatment)

provoked by fatty acids accumulating in MCAD and LCHAD deficiencies. J Inborn Errors of Metabolism and Screening . 2017 Apr 11. 5:1-7. . Haglind CB, Nordenström A, Ask S, von Döbeln U, Gustafsson J, Stenlid MH. Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast. J Inherit Metab Dis . 2015 March. 38(2):315-322. . . Amirkhan RH, Timmons CF, Brown KO, Weinberger MJ, Bennett MJ. Clinical, biochemical, and morphologic investigations (...) Long-Chain Acyl CoA Dehydrogenase Deficiency (Treatment) Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency Treatment & Management: Medical Care, Consultations, Diet Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache

2014 eMedicine Pediatrics

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