deficiency

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deficiency

Biology the absence of a gene or a region of a chromosome normally present
References in periodicals archive ?
Max the Monkey Has MCADD is the product of collaboration between Joanna Helm and Laurie Bernstein, dieticians at Children's Hospital Colorado metabolic clinic, and Kay Kelly, mother to two boys, one of whom has MCADD.
However, this becomes more clinically relevant for disorders such as MCADD and MSUD, for which the results in affected infants may be near the screening cutoffs.
Here, we report biochemical and genetic studies on MCADD neonates identified through NBS by LC-MS/MS performed on the whole newborns of central Italy (Tuscany and Umbria regions).
Of children with MCADD presenting clinically without the benefit of newborn screening, between one in five and one in four children will die or suffer severe disability (Grosse, Khoury, Greene, Crider, & Pollitt, 2006).
Babies with MCADD, a rare inherited condition, have problems breaking down fats to make energy for their body.
Currently, many countries have newborn screening programs that use MS/MS for MCADD, including the Netherlands, Germany, Denmark, the US, and Australia; the programs vary by age at which blood samples are collected.
In its first year, as Baily and Murray reported, Mississippi's expanded screening identified three cases of MCADD "along with twelve cases of other new disorders, out of a total of 116 newborn screening diagnoses." But "to help pay for the expansion, the state doubled the [screening] fee to seventy dollars.
A simple blood test at birth, to be introduced in Wales next year, would have shown she had medium chain acyl dehydrogenase deficiency (MCADD).
* Promote uptake of neonatal screening--hearing screening and blood spot screening for medium-chain acylcoenzyme A dehydrogenase deficiency (MCADD), phenylketonuria, hypothyroidism and cystic fibrosis
In 2000, a child named Ben Haygood died in rural Mississippi from a rare, inherited, undiagnosed metabolic disorder known as medium chain acyl-coenzyme A dehydrogenase deficiency, or MCADD. Children with MCADD seem healthy, but if they go without food for too long, they can suddenly become seriously ill, and they may even die.