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.
Mentioned in ?
References in periodicals archive ?
To deal with cases caused by intake of Litchi, we may add a metabolic screen to understand the aetiology comprehensively," Dr Gulati said.
AIIMS Delhi to find out cause of AES listed in 'unknown category'
Monitoring of metabolic screen during AAPs use is then mandatory and instituting effective measures to ameliorate MetS, arguably from the outset, might curtail long-term drastic sequelae.
Metformin for Antipsychotic-Related Metabolic Syndrome in Children: Fact or Fiction?
An approach to neurometabolic disorders by a simple metabolic screen. Indian Pediatrics 2000; 37: 63-69.
Prevalence of aminoacidurias in a Tertiary Care Pediatric Medical College Hospital
a) If metabolic screen abnormal, complete metabolic work-up (serum and/or urine amino acids, organic acids, mucopolysaccharides)
Autism spectrum disorders & the clinical geneticist: an approach to the family: the geneticist does not make the diagnosis of an ASD. Rather, this specialist is part of the interdisciplinary team of professionals who are involved in the diagnosis and management of such individuals. Ideally, a referral is made to the geneticist after the diagnosis has been made
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?
Normal newborn metabolic screen. Polyvitamin drops with iron prescribed but not administered at age 6 months, screening at age 9 months led to diagnosis of iron deficiency anemia with weight 8.64 kg (19 lbs, 25th percentile).
Infant with iron deficiency anemia
This report summarizes the results of the study, which indicate that 1% of children had a positive postmortem metabolic screen using tandem MS.
Contribution of selected metabolic diseases to early childhood deaths--Virginia, 1996-2001
Bennett recommended all children with developmental delay get a high-resolution banded karyotype, a DNA test for fragile X syndrome, and a urine metabolic screen.
Screen helps detect global developmental delay: child-development professionals advocate an in-depth process called developmental surveillance
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
Bennett recommended that all children with developmental delay get a high-resolution banded karyotype, a DNA test for fragile X syndrome, and a urine metabolic screen.
Vigilance urged on global developmental delay
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.
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

Medical browser ?
Full browser ?