MCADD was not something to cower in fear from--especially when armed with knowledge and a first-rate care team.
Before they started screening for disorders like MCADD as part of the newborn screening program," she wrote shortly after her son's diagnosis, "kids would die from this disorder.
Diagnostic evaluation for MCADD includes urine organic acids, plasma acylcarnitine analysis, and urine acylglycine analysis.
Researchers, clinicians, and policymakers need to understand the costs and outcomes of MCADD screening for several reasons: it is fairly common, it is frequently screened by MS/MS technology, it was recommended as one of nine disorders for screening prior to the latest federal recommendation to expand the number of disorders, and it is the disorder given the highest priority score in the evaluation system for screening criteria developed by ACMG (2005).
To determine C8 concentrations in the unaffected newborn population, we used data from the UK Collaborative Study of Newborn Screening for MCADD collected between November 2004 and April 2005 (inclusive) to examine the results of all infants who screened negative for MCADD.
Six centers participating in the UK Collaborative Study of MCADD  screened approximately half the births in the UK (approximately 350 000 births per year).
MCADD affects just one in 15,000 babies and only occurs when both parents are carriers.
The hospital put us in touch with the MCADD Society and a lady came round to explain the condition.
It can test for PKU, MCADD
, and a number of other disorders simultaneously.
Patients were divided into 2 classes, the MCADD
class, which included the 30 children with proven MCADD
identified through neonatal screening.
For example, good cases can be made for early identification and management of PKU and MCADD
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.