medium chain acyl-coenzyme A dehydrogenase deficiency

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medium chain acyl-coenzyme A dehydrogenase deficiency

An autosomal recessive disease (OMIM:201450) of fatty acid oxidation due to an inability to catabolise fat to ketones and energy, seen in the first two years of life as either sudden unexplained death at home or, if in hospital, as Reye syndrome.
 
Clinical findings
Intolerance to fasting, episodic vomiting, lethargy, coma, seizure, sudden death.
 
Lab
Hypoketotic hypoglycaemia, medium-chain dicarboxylic aciduria.
 
Diagnosis
Mutation analysis of paraffin-embedded blocks of postmortem tissue.

Molecular pathology
Defects in ACADM, which encodes an enzyme that catalyses the initial step of the mitochondrial fatty acid beta-oxidation pathway, causes medium chain acyl-coenzyme A dehydrogenase deficiency.
 
Management
Preventive by early therapy, frequent feedings or a slow release source of carbohydrates (e.g., uncooked cornstarch); avoid fasting.

medium chain acyl-coenzyme A dehydrogenase deficiency


An AR disease of fatty acid oxidation seen in the first 2 yrs of life as either sudden unexplained death at home or, if in the hospital, as Reye syndrome, due to an inability to break down fat to ketones and energy Clinical Intolerance to fasting, episodic vomiting, lethargy, coma, seizure, sudden death Lab Hypoketotic hypoglycemia, medium-chain dicarboxylic aciduria Diagnosis Mutation analysis of paraffin-embedded blocks of postmortem tissue.
References in periodicals archive ?
Four years have passed since Kay completed her year on the Consumer Task Force, and nearly two since Max the Monkey Has MCADD hit the online shelves.
Kay has received dozens of emails from other MCADD families thanking her for the book and telling her that they liked it so much, they bought additional copies for their school library or metabolic clinic.
Max the Monkey Has MCADD is available for purchase on Amazon.
Applying the base care figures to the number of newborns screened in Maryland per year, the probable cases of MCADD per 70,000 newborns is approximately four.
Infants with true-positive results for MCADD and BKT appear healthy in early infancy, but may develop serious illness during the first years of life.
The identification and treatment of newborns with mutations for newborn disorders such as MCADD is controversial because it is not known if these infants would ever have medical problems (Andresen et al.
These findings provide useful evidence for MCADD screening programs using C8 as a biomarker in samples obtained from newborns between the second and fourteenth days of life.
Research Funding: The UK Collaborative Study of Newborn Screening for MCADD was funded by a grant from the Department of Health (England) and commissioned by the UK National Screening Committee.
Khalid, [1] Juliet Oerton, [1] Guy Besley, [2] Neil Dalton, [3] Melanie Downing, [4] Anne Green, [5] Mick Henderson, [6] Steve Krywawych, [7] Veronica Wiley, [8] Bridget Wilcken, [8] and Carol Dezateux, [1] * on behalf of the UK Collaborative Study of Newborn Screening for MCADD
Finally, we performed an additional validation of the BCI variant for binarization for all folds with a secondary data set of MCADD cases and controls of the screening center in Hamburg, Germany, with a similar analyte spectrum.
A residual value of 100% means that according to the [chi square] values the binary feature separates the classes control and MCADD with the same accuracy as the numeric feature.
In the BCI variant, large declines in discriminatory performance indicated high variation in the MCADD group used to calculate the BCI threshold.