Medium chain acyl CoA dehydrogenase deficiency

An inherited deficiency of medium-chain acyl-CoA dehydrogenase that is characterized by intolerance to prolonged fasting, recurrent episodes of hypoglycemic COMA; medium-chain dicarboxylic aciduria, impaired ketogenesis, and low plasma and tissue CARNITINE levels. The disorder may be severe, and even fatal, in young patients. Germline mutations have been identified in the ACADM gene. OMIM: 201450

Also Known As:

Networked: 410 relevant articles (7 outcomes, 25 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Reye Syndrome (Reye's Syndrome)
2.	Phenylketonurias (Phenylketonuria)
3.	Multiple Acyl Coenzyme A Dehydrogenase Deficiency
4.	VLCAD deficiency
5.	Short chain Acyl CoA dehydrogenase deficiency

Experts

1.	Derks, Terry G J: 11 articles (11/2022 - 08/2005)
2.	Wajner, Moacir: 11 articles (01/2020 - 08/2003)
3.	Smit, G Peter A: 8 articles (09/2014 - 08/2005)
4.	Chakraborty, Pranesh: 7 articles (01/2021 - 11/2010)
5.	Reijngoud, Dirk-Jan: 7 articles (12/2016 - 08/2005)
6.	Potter, Beth K: 6 articles (01/2021 - 11/2010)
7.	Wilcken, Bridget: 6 articles (10/2010 - 06/2003)
8.	Hoffmann, Georg F: 5 articles (06/2022 - 10/2002)
9.	Tajima, Go: 5 articles (01/2022 - 09/2005)
10.	Gregersen, Niels: 5 articles (10/2020 - 03/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Medium chain acyl CoA dehydrogenase deficiency:

1.	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 04/01/2018 - "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. " 09/01/2014 - "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. " 01/01/2007 - "To study the safe and unsafe duration of fasting in children with medium chain acyl-Coenzyme A dehydrogenase (MCAD) deficiency, the literature and the database on Dutch MCAD-deficient patients were searched for data on fasting studies in patients with MCAD deficiency. " 08/01/1994 - "Postmortem blood and urine samples often are not available for further biochemical studies, and currently only medium-chain acyl-CoA dehydrogenase (MCAD) deficiency can be diagnosed by the molecular analysis of tissues. " 10/01/2023 - "Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is associated with ACADM gene mutations, leading to an impaired function and/or structure of MCAD. "
2.	Carnitine (L-Carnitine)FDA LinkGeneric 01/01/1989 - "Medium-chain acyl-CoA dehydrogenase deficiency: metabolic effects and therapeutic efficacy of long-term L-carnitine supplementation." 11/01/2022 - "Our aim was to study the effect of secondary carnitine deficiency (SCD) and carnitine supplementation on important outcome measures for persons with medium-chain Acyl-CoA dehydrogenase deficiency (MCADD). " 01/01/2005 - "This study was designed as a pilot to examine the effects of L-carnitine on exercise tolerance in patients with MCAD deficiency. " 01/01/2023 - "Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation." 11/01/2022 - "Plasma carnitine concentrations in Medium-chain acyl-CoA dehydrogenase deficiency: lessons from an observational cohort study."
3.	KetonesIBA 06/01/1999 - "These animal studies were therefore not helpful in improving our understanding of ketone body kinetics in children with MCAD deficiency." 06/01/1999 - "Pitfalls in the use of 2-octynoic acid as an in vivo model of medium-chain acyl-coenzyme A dehydrogenase deficiency: ketone turnover and metabolite studies in the rat." 06/01/1999 - "This is the reverse of the finding in children with MCAD deficiency, who have low levels of plasma ketones despite elevated free fatty acids. " 09/01/2010 - "In any clinical situation necessitating fatty acid oxidation, such as periods of fasting or metabolic stress due to intercurrent illness or infection, patients with MCAD deficiency will have continued glucose consumption with reduced or absent formation of ketones. " 02/01/2001 - "Stable isotope dilution studies of ketone kinetics were performed on three well children with homozygous 985G MCAD deficiency using 1,3-13C2 sodium acetoacetate and 1,2,3,4-13C4 sodium 3-hydroxybutyrate to ascertain the rates of ketone production, interconversion, and use. "
4.	IsotopesIBA 11/01/1997 - "MCAD deficiency is diagnosed from dried blood spots on filter paper cards from newborns on the basis of the increase of medium chain length acylcarnitines identified by isotope dilution mass spectrometry methods. " 05/01/1993 - "Analysis of specific acylcarnitines was performed by isotope-dilution tandem mass spectrometry on plasma or whole blood samples from 62 patients with MCAD deficiency. " 01/01/1990 - "In summary, we have demonstrated that the accurate quantitation of urinary HG and PPG by stable isotope dilution analysis is currently the most reliable method for the diagnosis of MCAD deficiency. " 11/14/1987 - "Stable isotope dilution method for diagnosis of medium chain acyl-CoA dehydrogenase deficiency." 08/06/1999 - "Using six stable isotope labeled internal standards, this method allows the biochemical diagnosis of glutaric aciduria type II and medium chain acyl-CoA dehydrogenase deficiency, and could contribute to the diagnosis of other FAO disorders when used in combination with other biochemical investigations on blood and urine. "
5.	4-decenoic acidIBA 07/31/2010 - "In the present work we investigated the in vitro effect of cis-4-decenoic acid, the pathognomonic metabolite of medium-chain acyl-CoA dehydrogenase deficiency, on various parameters of bioenergetic homeostasis in rat brain mitochondria. " 11/01/2007 - "Oxidative stress induction by cis-4-decenoic acid: relevance for MCAD deficiency." 01/01/1994 - "The lack of detection of cis-4-decenoic acid and HG in controls suggests that these are the metabolites of choice for blood spot identification of infants with MCAD deficiency." 07/31/1992 - "Diagnosis of medium chain acyl CoA dehydrogenase deficiency by measurement of cis-4-decenoic acid in dried blood spots." 01/01/1991 - "Rapid diagnosis of medium-chain acyl CoA dehydrogenase deficiency by measurement of cis-4-decenoic acid in plasma."
6.	Glucose (Dextrose)FDA LinkGeneric 04/01/2021 - "Continuous tissue glucose monitoring devices helped perioperative glucose monitoring of the pediatric patient with medium-chain acyl-CoA dehydrogenase deficiency." 04/01/2021 - "Successful perioperative management of a pediatric patient with medium-chain acyl-CoA dehydrogenase deficiency using a continuous tissue glucose monitoring device: A case report." 12/01/2022 - "This case indicates the importance of a continuous intravenous glucose infusion, and that remimazolam can be the first-line anesthetic for a patient with MCAD deficiency." 09/01/2010 - "In any clinical situation necessitating fatty acid oxidation, such as periods of fasting or metabolic stress due to intercurrent illness or infection, patients with MCAD deficiency will have continued glucose consumption with reduced or absent formation of ketones. "
7.	phenylpropionyl-coenzyme AIBA 02/01/2008 - "Measurement of MCAD activity in leukocytes or lymphocytes using phenylpropionyl-CoA as a substrate can be regarded as the gold standard to diagnose MCAD deficiency upon initial positive screening test results." 12/01/2012 - "Moreover, phenylpropionyl-CoA has been shown to be a substrate for MCAD and its intermediates accumulate in patients with MCAD deficiency. " 02/01/2008 - "Measurement of MCAD activity using phenylpropionyl-CoA as a substrate further discriminated between newborns with MCAD deficiency and so-called mild MCAD deficiency. "
8.	Volatile Oils (Essential Oils)IBA 12/01/2020 - "Essential oils can cause false-positive results of medium-chain acyl-CoA dehydrogenase deficiency."
9.	EnzymesIBA 09/01/2001 - "Eleven of 12 babies with persistent abnormalities had metabolite and/or enzyme studies indicating MCAD deficiency. " 01/01/2019 - "Mild MCAD deficiency was defined by variant ACADM genotypes with a residual MCAD enzyme activity ≥10%. " 01/01/2019 - "Severe MCAD deficiency was defined by ACADM genotypes associated with clinical ascertainment, or variant ACADM genotypes with a residual MCAD enzyme activity <10%. " 03/20/2013 - "An emergency regimen and parental instructions remain necessary in all subjects with MCAD deficiency, regardless of residual MCAD enzyme activity." 05/25/2012 - "Parental instructions and an emergency regimen will remain principles of the treatment in any type of MCAD deficiency, as the effect of intercurrent illness on residual MCAD enzyme activity remains uncertain. "
10.	Fatty Acids (Saturated Fatty Acids)IBA 12/24/2004 - "In the present study, we investigated the in vitro effect of the medium-chain fatty acids (MCFA), at concentrations varying from 0.01 to 3 mM, accumulating in MCAD deficiency on some parameters of energy metabolism in cerebral cortex of young rats. " 11/01/2023 - "Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency." 05/25/2023 - "The association of fatty acid oxidation disorders and HypoPT has been previously described in the literature, but its link to MCAD deficiency has only been reported once. " 01/01/2023 - "Here, we mainly focus on medium-chain acyl-CoA dehydrogenase deficiency (MCADD), the most common inborn error of the mitochondrial fatty acid oxidation (mFAO). " 03/24/2021 - "Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive fatty acid β-oxidation defect. "

Therapies and Procedures

1.	Therapeutics 06/01/1992 - "Urinary medium-chain acylcarnitines in medium-chain acyl-CoA dehydrogenase deficiency, medium-chain triglyceride feeding and valproic acid therapy: sensitivity and specificity of the radioisotopic exchange/high performance liquid chromatography method." 10/01/1989 - "Quantitation of urinary carnitine esters in a patient with medium-chain acyl-coenzyme A dehydrogenase deficiency: effect of metabolic state and L-carnitine therapy." 01/01/1992 - "Acylcarnitine profiling in plasma and dried blood spots by radioisotopic exchange/HPLC demonstrates that MCAD deficiency can be reliably detected in the asymptomatic state without L-carnitine therapy. " 11/01/2023 - "In search for anaplerotic therapy for patients with MCAD deficiency, fibroblasts from three patients homozygous for the most common mutation, ACADMG985A/G985A, were treated with fatty acids hypothesized not to require MCAD for their metabolism, including heptanoic (C7; the active component of triheptanoin), 2,6-dimethylheptanoic (dMC7), 6-amino-2,4-dimethylheptanoic (AdMC7), or 4,8-dimethylnonanoic (dMC9) acids. " 11/01/2023 - "Triheptanoin (triheptanoylglycerol) has shown value as anaplerotic therapy for patients with long chain fatty acid oxidation disorders but is contraindicated in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. "
2.	Ligation 01/01/1998 - "Molecular diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by oligonucleotide ligation assay." 01/01/1998 - "Molecular diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by oligonucleotide ligation assay."
3.	Intraperitoneal Injections 06/01/1999 - "2-Octynoic acid was administered by intraperitoneal injection to fasted Sprague-Dawley rats in an attempt to simulate medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency. " 06/01/1989 - "Rats given 2-octynoic acid by intraperitoneal injection excrete elevated amounts of medium-chain dicarboxylic acids and other acidic metabolites usually associated with human medium-chain acyl-CoA dehydrogenase deficiency. "
4.	Anesthesia 01/01/2017 - "A retrospective review of case notes of children with medium-chain acyl-CoA dehydrogenase deficiency undergoing anesthesia between 1997 and 2014. " 12/01/2006 - "Anesthesia in a child with medium-chain Acyl-CoA dehydrogenase deficiency." 01/01/2017 - "To review the management of anesthesia and perioperative care for children with medium-chain acyl-CoA dehydrogenase deficiency and determine the frequency and nature of any complications. " 01/01/2017 - "A retrospective review of anesthesia and perioperative care in children with medium-chain acyl-CoA dehydrogenase deficiency."
5.	Perioperative Care 01/01/2017 - "To review the management of anesthesia and perioperative care for children with medium-chain acyl-CoA dehydrogenase deficiency and determine the frequency and nature of any complications. " 01/01/2017 - "A retrospective review of anesthesia and perioperative care in children with medium-chain acyl-CoA dehydrogenase deficiency."