deficiency

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deficiency

Biology the absence of a gene or a region of a chromosome normally present
References in periodicals archive ?
This is the first multicenter cross-country study examining C8 concentrations in unaffected infants undergoing newborn screening for MCADD.
These screening programs use different thresholds to define a positive screening result for MCADD owing to differences in screening criteria, health technologies, and case definitions (17).
We don't know yet the disorder's exact prevalence in Georgia, but national estimates indicate that one in every 15,000 babies may be affected, making MCADD nearly as common as PKU (Phenylketonuria), a disorder that, if not identified and treated early, causes severe irreversible mental retardation.
If untreated, MCADD can lead to seizures, cardiac arrest, mental retardation and even death.
Around one in 100 Sudden Infant Death Syndrome (SIDS) deaths is probably a result of undiagnosed MCADD.
The resulting binary feature C8 > 1 exhibited 2 possible values-t-rue and false--which can be mapped to the classes MCADD and control.
The 1st variant selected thresholds based on the range of values in the MCADD group of the learning set.
A child with undetected MCADD can be perfectly normal, then get a viral illness and stop eating.
But newborn screening programs must test many newborns in order to identify the few with MCADD.
13) Even with MCADD, population screening studies suggest there are less severe genetic variants for which the impact of early detection and treatment is uncertain.