metabolic screen

metabolic screen

A battery of tests performed on a neonate which identifies the most common treatable metabolic diseases—e.g., cystic fibrosis, galactosaemia, homocystinuria, hypothyroidism, maple syrup urine disease, PKU.

metabolic screen

Metabolic profile Neonatology A battery of tests on a neonate that identifies the most common treatable metabolic diseases–eg, cystic fibrosis, galactosemia, homocystinuria, hypothyroidism, maple syrup urine disease, PKU. See Neonatal panel/profile, Neonatal screen.
References in periodicals archive ?
An approach to neurometabolic disorders by a simple metabolic screen.
In my experience, the most common reason for an elevated TSH is that the metabolic screen was drawn too early, before the initial physiologic peak after birth has returned to the screening cutoff level.
This report summarizes the results of the study, which indicate that 1% of children had a positive postmortem metabolic screen using tandem MS.
For the remaining six children with positive tandem MS metabolic screens, no confirmatory tests using postmortem blood were available.
The median age at death of the eight children with positive metabolic screens was 7.
In this case, the work-up should include a metabolic screen for lactic acid, ammonia, serum amino acids, and carnitine as well as urinary ketones and organic acids.
In conclusion, the importance of developing a routine postmortem metabolic screen in the investigation of premature or unexplained death in infants and children cannot be understated.
In fact, it is likely that some toxicology screens can be achieved from the same postmortem blood specimen used for inborn error metabolic screens.
Results from the metabolic screen indicate argininosuccinic aciduria, a urea cycle defect.