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.
That initial entry soon spurred a spinoff blog centered on her experience as parent to a child with special health needs, fittingly titled MCADD for Moms (mcaddformoms.
3] Nonstandard abbreviations: NBS, newbornscreening; DBS, dried blood spots; PKU, phenylketonuria; MCADD, medium chain acyl-CoA dehydrogenase deficiency; CHT, congenital hypothyroidism; CF, cystic fibrosis; MSUD, maple syrup urine disease; IVA, isovaleric acidemia; GA1, glutaric aciduria type 1; HCU, homocystinuria; TSH, thyroid-stimulating hormone; IRT, immunoreactivetrypsinogen.
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).
MCADD is prevalent in Caucasians and is particularly common in populations of northern European origin (Carpenter et al.
Dr Sharon Hillier, deputy director of the screening division of Public Health Wales, said: "The introduction of MCADD screening puts Wales in line with other UK countries where this test is already available.
Our goals were to ascertain whether the concentration of C8 is affected by age at sampling, as has been suggested (2, 3), whether this change occurs in unaffected newborns as well as in those with MCADD (2), and whether thresholds need to take into account age at sampling, sex, or prematurity.
After Ben died, his father became a passionate advocate for expanding Mississippi's newborn screening program to add MCADD and other disorders.
People with MCADD cannot go without food for very long; fasting may cause them to suddenly experience hypoglycemia, vomiting, lethargy, seizures, encephalopathy, coma, apnea, respiratory arrest, cardiac arrest, and sudden death.
In fact, exactly these types of samples may be referred for diagnostic purposes, as obtaining urine samples during acute MCADD presentations may not be feasible because individuals may recover quickly from their presenting symptoms.