Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Galactosemia: when is it a newborn screening emergency?

Molecular genetics and metabolism - 1 May 2012

Berry Gerard T

Abstract excerpt

Classic galactosemia is an autosomal recessive disorder of carbohydrate metabolism, due to a severe deficiency of the enzyme, galactose-1-phosphate uridyltransferase (GALT), that catalyzes the conversion of galactose-1-phosphate and uridine diphosphate glucose (UDPglucose) to uridine diphosphate galactose (UDPgalactose) and glucose-1-phosphate. Upon consumption of lactose in the neonatal period, the affected...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Galactose
Share to Galactosemias
Share to Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Mutation

Share to Neonatal Screening

Share to Polymorphism, Genetic

Share to UTP-Hexose-1-Phosphate Uridylyltransferase

Source

Identifiers

PMID: 22483615
DOI: 10.1016/j.ymgme.2012.03.007

Genes

GALT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Galactosemia: when is it a newborn screening emergency?PMID 22483615Read ↗

Neonatal Classic Galactosemia in North India: A 7-Year Cohort Study of Presentation, Genetics, and OutcomesSemantic proximity Read ↗

The Importance of Neonatal Screening for Galactosemia.Semantic proximity Read ↗

Neonatal classic galactosemia-diagnosis, clinical profile and molecular characteristics in unscreened Turkish population.Semantic proximity Read ↗

Newborn screening for galactosemia: a review of 5 years of data and audit of a revised reporting approach.Semantic proximity Read ↗

Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and TreatmentSemantic proximity Read ↗

Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.Semantic proximity Read ↗

Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in TurkeySemantic proximity Read ↗

Classic galactosemia: dietary dilemmasSemantic proximity Read ↗

GALT Deficiency GalactosemiaSemantic proximity Read ↗

Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants.Semantic proximity Read ↗

A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.Semantic proximity Read ↗

Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel GALT Gene Mutation Identified.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.