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MCADHMedium-Chain Acyl-CoA Dehydrogenase (deficiency)
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VLCAD, very-long-chain acyl-CoA dehydrogenase; MCAD, medium-chain acyl-CoA dehydrogenase; SCADD, short-chain acyl-CoA dehydrogenase; TCA, tricarboxylic acid.
Rutledge et al., "Molecular basis of inherited medium-chain acyl-CoA dehydrogenase deficiency causing sudden child death," Journal of Inherited Metabolic Disease, vol.
MACD (medium-chain acyl-CoA dehydrogenase deficiency)
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common metabolic defect of fatty acid oxidation.
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.
MCAD stands for medium-chain acyl-CoA dehydrogenase. Children born with MCAD deficiency cannot digest medium-chain fats, such as coconut oil.
Healthcare use and costs of medium-chain acyl-CoA dehydrogenase deficiency in Australia: screening versus no screening.
The newborn blood spot (also known as 'heel prick') screens for phenylketonuria, congenital hypothyroidism, sickle cell disease, cystic fibrosis and medium-chain acyl-CoA dehydrogenase deficiency (MCADD).
Based on specific evaluation criteria, the disorders were ranked from 1 (highest priority) to 29, with Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) being first in the ranking and Beta-ketothiolase (BKT) ranking number 29 (ACMG, 2005).
For a few of the disorders, such as Medium-Chain Acyl-CoA Dehydrogenase deficiency (MCAD), the screening pattern is very specific and diagnosis is simplified; while for others, the elevations may be caused by more than one metabolic disorder.
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) [9] leads to the accumulation of octanoylcarnitine (C8) in the blood and can be diagnosed by analysis of the concentration of acylcarnitines by use of tandem mass spectrometry (MS/MS) (1).
Ten disorders accounted for an estimated 100 or more cases (phenylketonuria, 3-methylcrotonylCoA carboxylase deficiency, medium-chain acyl-CoA dehydrogenase deficiency, Hb SS, Hb SC, Hb S/a thalassemia, congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, and cystic fibrosis).
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