Tags

Type your tag names separated by a space and hit enter

[From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency].
Ned Tijdschr Geneeskd. 2004 Jan 10; 148(2):80-1.NT

Abstract

Classical galactosaemia (Mendelian Inheritance in Man, no 230400) is an autosomal recessive disorder of galactose metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). The GALT enzyme is responsible for the conversion of galactose-1-phosphate with UDP glucose to glucose-1-phosphate and UDP galactose. The gene encoding for GALT is located on chromosome 9p13. Patients present with hepatomegaly, liver failure, food intolerance, hypoglycaemia, muscle hypotonia, sepsis and cataract. Treatment involving the total restriction of lactose-containing foods is life-saving but many patients develop late complications such as problems of mental development, disorders of motor function, disorders of speech and hypergonadotrophic hypogonadism.

Authors+Show Affiliations

Ziekenhuis Gooi-Noord, afd. Kindergeneeskunde, Plaricum.No affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article
Review

Language

dut

PubMed ID

14753129

Citation

Bosch, A M., et al. "[From Gene to Disease; Galactosemia and Galactose-1-phosphate Uridyltransferase Deficiency]." Nederlands Tijdschrift Voor Geneeskunde, vol. 148, no. 2, 2004, pp. 80-1.
Bosch AM, Waterham HR, Bakker HD. [From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency]. Ned Tijdschr Geneeskd. 2004;148(2):80-1.
Bosch, A. M., Waterham, H. R., & Bakker, H. D. (2004). [From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency]. Nederlands Tijdschrift Voor Geneeskunde, 148(2), 80-1.
Bosch AM, Waterham HR, Bakker HD. [From Gene to Disease; Galactosemia and Galactose-1-phosphate Uridyltransferase Deficiency]. Ned Tijdschr Geneeskd. 2004 Jan 10;148(2):80-1. PubMed PMID: 14753129.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency]. AU - Bosch,A M, AU - Waterham,H R, AU - Bakker,H D, PY - 2004/2/3/pubmed PY - 2004/4/7/medline PY - 2004/2/3/entrez SP - 80 EP - 1 JF - Nederlands tijdschrift voor geneeskunde JO - Ned Tijdschr Geneeskd VL - 148 IS - 2 N2 - Classical galactosaemia (Mendelian Inheritance in Man, no 230400) is an autosomal recessive disorder of galactose metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). The GALT enzyme is responsible for the conversion of galactose-1-phosphate with UDP glucose to glucose-1-phosphate and UDP galactose. The gene encoding for GALT is located on chromosome 9p13. Patients present with hepatomegaly, liver failure, food intolerance, hypoglycaemia, muscle hypotonia, sepsis and cataract. Treatment involving the total restriction of lactose-containing foods is life-saving but many patients develop late complications such as problems of mental development, disorders of motor function, disorders of speech and hypergonadotrophic hypogonadism. SN - 0028-2162 UR - https://www.unboundmedicine.com/medline/citation/14753129/[From_gene_to_disease L2 - http://www.diseaseinfosearch.org/result/2973 DB - PRIME DP - Unbound Medicine ER -