deficiency

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deficiency

Biology the absence of a gene or a region of a chromosome normally present
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1] Nonstandard abbreviations: IEM, inborn error(s) of metabolism; GC-MS, gas chromatography-mass spectrometry; ESI, electrospray ionization; TMS, tandem mass spectrometry; MRM, multiple reaction monitoring; OMIM, Online Mendelian Inheritance in Man accession number; THCA, tetrahydroxycholestanoic acid; ASA, argininosuccinate; and MCADD, medium-chain acyl-CoA dehydrogenase deficiency.
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.
an abnormal acylcarnitine spectrum for a case of medium-chain acyl-CoA dehydrogenase deficiency diagnosed by this technique in neonatal screening samples.

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