deficiency

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deficiency

Biology the absence of a gene or a region of a chromosome normally present
References in periodicals archive ?
Joy et al., "Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study," The Lancet, vol.
Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship between genotype and biochemical phenotype?
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Human Mutation, 25(5), 443-452.
Identification of new medium-chain acylcarnitines present in urine of a patient with medium-chain acyl-CoA dehydrogenase deficiency. Journal of Inherited Metabolic Disease, v.22, p.9-18, 1999.
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.

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