Related Experiment Video
Updated: Apr 16, 2026
09:28
One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
13.7K
Newborn screening for galactosemia: a 30-year single center experience.
Francesco Porta1, Severo Pagliardini, Veronica Pagliardini
1Department of Pediatrics, University of Torino, Torino, Italy, porta.franc@gmail.com.
World Journal of Pediatrics : WJP
|March 11, 2015
Summary
Newborn screening for galactosemia is crucial. Early detection prevents acute liver failure in classic galactosemia, but intellectual disabilities persist in severe GALT deficiency cases.
Area of Science:
- Medical Genetics
- Newborn Screening
- Metabolic Disorders
Background:
- Galactosemia, caused by galactose-1-phosphate uridyltransferase (GALT) deficiency, was an early addition to newborn screening panels.
- Despite its inclusion, the necessity of screening for galactosemia has faced scrutiny, with limited long-term data available.
Purpose of the Study:
- To evaluate the long-term clinical outcomes of newborn screening for hypergalactosemia.
- To assess the effectiveness of current screening protocols for galactosemia and related disorders.
Main Methods:
- Retrospective review of newborn screening results for hypergalactosemia from 1982 onwards.
- Analysis of long-term clinical outcomes for diagnosed patients.
Main Results:
- Out of 1,123,909 screened newborns, 33 had confirmed hypergalactosemia.
- Diagnoses included classic galactosemia (13), partial GALT deficiency (8), galactokinase deficiency (3), transient galactosemia (7), and rare conditions.
- Classic galactosemia led to acute neonatal liver failure if not treated prescriptively; severe GALT deficiency resulted in intellectual disabilities despite early treatment.
Conclusions:
- Timely newborn screening results (within 5 days) can prevent acute decompensation in classic galactosemia.
- Comprehensive diagnostic evaluation is vital for all positive newborn screening cases to determine the specific cause of hypergalactosemia.
Related Concept Videos
01:27Glucose Transporters
28.5K
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
28.5K
01:20Inborn Errors of Metabolism
1.0K
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
1.0K