MCAD deficiency is inherited as an autosomal recessive trait and is caused by mutations in the medium-chain acyl-CoA dehydrogenase (ACADM) gene, which is located on chromosome 1p31 and consists of 12 exons spanning 44 Kb [8].
We were able to save about 15 babies with medium-chain acyl-CoA dehydrogenase or
MCAD deficiency, a condition that prevents the body from converting certain fats in food to energy," Dr al-Rifai said, adding: "The early detection has allowed for early treatment.
Clinical outcomes for
MCAD deficiency are now excellent, and data on some of the other screened disorders are starting to show the benefit of early diagnosis.
"They are looking for answers over Luca's death and we hope the inquest can provide these for the Picone-Chiodo family."
MCAD deficiency is the lack of an enzyme that makes it impossible to digest certain kinds of fat.
Rebecca said: "It is a cause close to my heart, as myself and my brother have always received fantastic care from the NHS since we were both born
MCAD Deficiency. "The illness claimed the lives of two older siblings, simply because not enough was known about it.
An Assembly Government spokesman said: "Work is under way to introduce screening tests for
MCAD deficiency and sickle cell disorders by 2011."
During evidence, Mr Williams, a special needs carer, said screening for
MCAD deficiency was not available in Wales for new babies when Sofia was born.
Rapid diagnosis of
MCAD deficiency: Quantitative analysis of octanoilcarnitine and other acylcarnitine in newborn blood spots by tamdem mass spectrometry.
Rapid diagnosis of
MCAD deficiency: Quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry.
For some analytes, such as octanoylcarnitine, the lowest level ever associated with true
MCAD deficiency is sufficiently elevated above the unaffected population mean as to allow for a cutoff that results in fewer than half of "alert" samples being false-positive.