Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia.

doi:10.1007/s001090050272

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Article

Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia.

Journal of molecular medicine (Berlin, Germany) - 1 Sept 1998

Schuster V, Podskarbi T, Ottensmeier H, Haubner M, Shin Y S

Abstract excerpt

Classical galactosemia, characterized clinically by acute hepatic dysfunction, sepsis, cataract, and failure to thrive, is caused by deficiency of galactose-1-phosphate uridyltransferase (GALT). Galactose restriction normalizes these acute symptoms; however, long-term complications such as intell...

Topics

Adolescent
Female
Galactosemias
Galactosephosphates
Genetic Carrier Screening
Heterozygote
Humans
Infant, Newborn
Male
Mutation
Pedigree
Phenotype
Polymorphism, Genetic
Turkey
UTP-Hexose-1-Phosphate Uridylyltransferase

Source

Open in PubMed

Identifiers

PMID: 9766850
DOI: 10.1007/s001090050272

Genes

GALT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9766850-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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