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.
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An approach to neurometabolic disorders by a simple metabolic screen.
Prevalence of aminoacidurias in a Tertiary Care Pediatric Medical College Hospital
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.
What are the causes of elevated TSH in a newborn?
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.
Contribution of selected metabolic diseases to early childhood deaths--Virginia, 1996-2001
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.
New algorithm for cyclic vomiting syndrome is underway
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.
Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death
Results from the metabolic screen indicate argininosuccinic aciduria, a urea cycle defect.
Diagnostic Dilemma

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