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A ten-year follow-up study of urinary screening for inherited metabolic disorders
J Hyánek1, H Viletová, V Kunová
1School of Medicine, Charles University, Prague.
Insights
Late-infant screening detected 239 persistent metabolic disorders, including hyperaminoacidurias and melliturias, missed by early newborn screening. This highlights the importance of later metabolic testing in infants.
Area of Science:
- Biochemistry
- Pediatrics
- Medical Screening
Background:
- Newborn screening is crucial for early detection of metabolic disorders.
- Current screening methods may miss certain conditions that manifest later in infancy.
Purpose of the Study:
- To evaluate the utility of late-infant urine screening for metabolic disorders.
- To identify persistent metabolic disorders not detected by early newborn screening.
Main Methods:
- Chromatographic screening of urine samples from 200,000 infants (6-8 months old).
- Analysis for amino acids, sugars, and mucopolysaccharides.
- Verification of positive cases through detailed metabolic investigations.
Main Results:
- Detected persistent hyperaminoacidurias (1.4%), melliturias (0.15%), and alcaptonuria (0.05%).
- Identified 239 persistent metabolic disorders missed by early capillary blood screening.
- No cases of mucopolysaccharidosis were detected.
Conclusions:
- Late-infant urine screening is effective in detecting persistent metabolic disorders.
- These disorders are often missed by early newborn screening protocols.
- Expanded screening protocols may be warranted to improve infant health outcomes.
Abstract:
Urine samples of 200,000 sucklings in 6th-8th month after delivery was analyzed by means of chromatographic screening test for amino acids, sugars and muccopolysacharides. In 1.4% of them persistent and in 51.6% transitory hyperaminoacidurias, in 0.15% persistent and 12.5% transitory melliturias and in 0.05% alcaptonuria were detected. No one case of muccopolysacharidosis was detected. 239 persistent metabolic disorders were detected. These disorders were not possible to detect by means of an obligatory screening test performed on 5th-6th day after delivery from capillary blood. All positive detected cases were verified by detailed metabolic investigation (thin layer, liquid and gas-chromatography).