Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA

1994 ◽  
Vol 17 (3) ◽  
pp. 275-278
Author(s):  
B. S. Andresen ◽  
P. Bross ◽  
I. Knudsen ◽  
V. Winter ◽  
S. K�lvraa ◽  
...  
Keyword(s):  
Common Mutation ◽  
Mcad Deficiency ◽  
Medium Chain ◽  
Chain Acyl ◽  
The Common ◽  
Low Levels

scholarly journals Population screening for the common G985 mutation causing medium-chain acyl-CoA dehydrogenase deficiency with Eu-labeled oligonucleotides and the DELFIA system

1997 ◽  
Vol 43 (3) ◽  
pp. 436-442 ◽  
Author(s):  
Helen R Seddon ◽  
George Gray ◽  
Rodney J Pollitt ◽  
Antti Iitiä ◽  
Anne Green
Keyword(s):  
Neonatal Screening ◽  
Large Scale ◽  
Mcad Deficiency ◽  
Time Resolved ◽  
Medium Chain ◽  
Chain Acyl ◽  
The Common ◽  
G985 Mutation ◽  
The Uk ◽  
Neonatal Blood Spots

Abstract We have screened 10 171 neonatal blood spots from the Trent and West Midlands regions of the UK for the common G985 mutation to more accurately establish the incidence of medium-chain acyl coenzyme (Co)A dehydrogenase (MCAD) deficiency. We have used a technique involving PCR and Eu-labeled allele-specific oligonucleotides detected by using time-resolved fluorometry on the dissociation-enhanced fluorescence immunoassay (DELFIA) system for the detection of the G985 mutation. We have also evaluated the feasibility of neonatal screening with this technique. We identified 158 G985 heterozygotes and no G985 homozygotes. The calculated incidence of MCAD deficiency in the population studied (all mutations, assuming 90% of MCAD mutations are G985) is 1 in 13 426 (95% confidence limits 1 in 10 070–1 in 18 791). At the optimum cutoff criteria, the technique has a sensitivity of 97.5%, specificity of 99.6%, and positive predictive value of 80.2%. We conclude that this study confirms that MCAD deficiency is a common inherited metabolic disease and is a candidate for neonatal screening. The methodology used is robust and suitable for large-scale population studies such as this. The technique is also potentially suitable for screening.

scholarly journals Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase ( MCAD ) deficiency: Are predictions possible?

2021 ◽  
Author(s):  
Sara Tucci ◽  
Christine Wagner ◽  
Sarah C. Grünert ◽  
Uta Matysiak ◽  
Natalie Weinhold ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Residual Enzyme Activity ◽  
Mcad Deficiency ◽  
Medium Chain ◽  
Chain Acyl

scholarly journals Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype

2012 ◽  
Vol 38 (1) ◽  
pp. 59 ◽  
Author(s):  
Cristina Lovera ◽  
Francesco Porta ◽  
Anna Caciotti ◽  
Serena Catarzi ◽  
Michela Cassanello ◽  
...  
Keyword(s):  
Infant Death ◽  
Mcad Deficiency ◽  
Medium Chain ◽  
Sudden Unexpected Infant Death ◽  
Chain Acyl ◽  
Unexpected Infant Death

Pulmonary haemorrhage and cardiac dysfunction in a neonate with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

2005 ◽  
Vol 94 (1) ◽  
pp. 114-116 ◽  
Author(s):  
K. Maclean ◽  
V. Rasiah ◽  
E. Kirk ◽  
K. Carpenter ◽  
S. Cooper ◽  
...  
Keyword(s):  
Cardiac Dysfunction ◽  
Pulmonary Haemorrhage ◽  
Mcad Deficiency ◽  
Medium Chain ◽  
Chain Acyl

P37 A single paediatric centre experience of l-carnitine supplementation in medium-chain acyl-coa dehydrogenase deficiency (mcadd)

2018 ◽  
Vol 103 (2) ◽  
pp. e2.41-e2
Author(s):  
William Batten ◽  
Efstathia Chronopoulou ◽  
Germaine Pierre
Keyword(s):  
Fatty Acids ◽  
Dehydrogenase Deficiency ◽  
Free Carnitine ◽  
List Type ◽  
Carnitine Supplementation ◽  
Medium Chain ◽  
Number Of Patients ◽  
Chain Acyl ◽  
Body Odour ◽  
Low Levels

University Hospitals BristolAimThe aim of the project was to establish whether patients with MCADD treated at Bristol Royal Hospital for Children (BRHC) are supplemented with l-carnitine and to establish further details for supplementation.BackgroundMCADD is the most common type of fatty acid oxidation disorder in the UK.1l-carnitine is a co-factor in the oxidation of fatty acids in mitochondria and eliminates excess medium chain fatty acids. l-carnitine supplementation in MCADD is controversial with no consistent findings in publications.2MethodsThe paediatric metabolic database at BRHC was interrogated to find the number of patients with MCADD. Patients who were either deceased or discharged from the metabolic service were excluded. Medical notes and pharmacy records were reviewed for each patient to determine patient demographics, dosing information and reasons for implementation of l-carnitine using a data collection tool which was piloted on the first 5 patients. The data was analysed using Microsoft Excel.ResultsOf 35 patients treated for MCADD, 13 patients (37%) received l-carnitine. The most common age group treated was 6–10 years (n=6). The mean dose of L-carnitine=77.7 mg/kg/day; range 45–100 mg/kg/day; most common dose=100 mg/kg/day (n=6). 92% of patients received the 300 mg/mL liquid. Of the 13 patients, 1 had low free carnitine but was asymptomatic; 8 were symptomatic with low levels and 3 were symptomatic with borderline low levels and 1 had no reason documented. All symptomatic patients improved with therapy. Those who stopped supplementation on correction (n=3), all restarted due to return of symptoms with falling levels. 2 of these patients have a vegetarian diet, a reason for low free carnitine. 2 patients had their doses reduced from 100 to 50 mg/kg/day due to side effects, particularly fishy body odour exacerbated by hot weather. 1 patient complained of the same effect, but the dose remained the same.ConclusionThe majority of patients in this centre are not treated with l-carnitine. The reason for treatment is mainly low free carnitine associated with symptoms. Clinical and biochemical improvement was observed with treatment. The most common dose prescribed was 100 mg/kg/day; with the observed side effect of a fishy body odour also being the most common reason for dose reduction. The most commonly prescribed preparation is a 300 mg/mL licensed liquid. Problems with availability and palatability reduce the usage of licensed tablet preparations. We hope to expand the project nationally with other UK metabolic centres.ReferencesSaudebray. Inborn metabolic diseases: Diagnosis and treatment (5th ed.) 2011. Springer.Matern D, Rinaldo P. Medium-chain acyl-coenzyme a dehydrogenase deficiency 2015. GeneReviews®. 2000, updated 2015. http://www.ncbi.nlm.nih.gov/books/NBK1424/

scholarly journals A nationwide retrospective observational study of population newborn screening for medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in the Netherlands

2019 ◽  
Vol 42 (5) ◽  
pp. 890-897 ◽  
Author(s):  
Emmalie A. Jager ◽  
Myrthe M. Kuijpers ◽  
Annet M. Bosch ◽  
Margot F. Mulder ◽  
Estela R. Gozalbo ◽  
...  
Keyword(s):  
The Netherlands ◽  
Observational Study ◽  
Newborn Screening ◽  
Retrospective Observational Study ◽  
Mcad Deficiency ◽  
Medium Chain ◽  
Chain Acyl

Pulmonary haemorrhage and cardiac dysfunction in a neonate with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

2007 ◽  
Vol 94 (1) ◽  
pp. 114-116
Author(s):  
K. Maclean ◽  
V. S. Rasiah ◽  
E. P. E. Kirk ◽  
K. Carpenter ◽  
S. Cooper ◽  
...  
Keyword(s):  
Cardiac Dysfunction ◽  
Pulmonary Haemorrhage ◽  
Mcad Deficiency ◽  
Medium Chain ◽  
Chain Acyl

scholarly journals Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Michael Pugliese ◽  
◽  
Kylie Tingley ◽  
Andrea Chow ◽  
Nicole Pallone ◽  
...  
Keyword(s):  
Mcad Deficiency ◽  
Medium Chain ◽  
Chain Acyl
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