Galactosemia

Albert Flynn

doi:10.1016/b978-0-12-818766-1.00094-5

Galactosemia

Albert Flynn

Research output: Chapter in Book/Report/Conference proceedings › Entry for encyclopedia/dictionary

Abstract

Galactosemia is a rare autosomal recessive disorder due to a deficiency of galactose-1-P:uridyl transferase (GALT) (classic galactosemia), galactokinase (GALK) or UDP-galactose-4 epimerase (GALE). GALT deficiency results in the accumulation of galactose-1-P in tissues, which damages the liver, eye, brain, ovary and kidney. In GALK deficiency galactose may be converted into galactitol which can cause cataract. Only a minority of patients with GALE deficiency have clinical symptoms which are similar to classic galactosemia. Although there is continuous endogenous production of galactose in affected individuals, the long-term treatment remains a diet restricted in galactose

Original language	English
Title of host publication	Encyclopedia of Dairy Sciences
Subtitle of host publication	Third edition
Editors	P. L. H. McSweeney, J. P. McNamara
Publisher	Elsevier
Pages	853-858
Number of pages	6
Volume	5
ISBN (Electronic)	9780128187661
ISBN (Print)	9780128187678
DOIs	https://doi.org/10.1016/b978-0-12-818766-1.00094-5
Publication status	Published - 2022

Access to Document

10.1016/b978-0-12-818766-1.00094-5

Cite this

@inbook{5fbc78e032d54bedba522f392d8ff89a,

title = "Galactosemia",

abstract = "Galactosemia is a rare autosomal recessive disorder due to a deficiency of galactose-1-P:uridyl transferase (GALT) (classic galactosemia), galactokinase (GALK) or UDP-galactose-4 epimerase (GALE). GALT deficiency results in the accumulation of galactose-1-P in tissues, which damages the liver, eye, brain, ovary and kidney. In GALK deficiency galactose may be converted into galactitol which can cause cataract. Only a minority of patients with GALE deficiency have clinical symptoms which are similar to classic galactosemia. Although there is continuous endogenous production of galactose in affected individuals, the long-term treatment remains a diet restricted in galactose",

author = "Albert Flynn",

note = "Copyright {\textcopyright} 2022 Elsevier Ltd.",

year = "2022",

doi = "10.1016/b978-0-12-818766-1.00094-5",

language = "English",

isbn = "9780128187678",

volume = "5",

pages = "853--858",

editor = "McSweeney, \{P. L. H.\} and McNamara, \{J. P.\}",

booktitle = "Encyclopedia of Dairy Sciences",

publisher = "Elsevier",

address = "Netherlands",

}

TY - CHAP

T1 - Galactosemia

AU - Flynn, Albert

PY - 2022

Y1 - 2022

N2 - Galactosemia is a rare autosomal recessive disorder due to a deficiency of galactose-1-P:uridyl transferase (GALT) (classic galactosemia), galactokinase (GALK) or UDP-galactose-4 epimerase (GALE). GALT deficiency results in the accumulation of galactose-1-P in tissues, which damages the liver, eye, brain, ovary and kidney. In GALK deficiency galactose may be converted into galactitol which can cause cataract. Only a minority of patients with GALE deficiency have clinical symptoms which are similar to classic galactosemia. Although there is continuous endogenous production of galactose in affected individuals, the long-term treatment remains a diet restricted in galactose

AB - Galactosemia is a rare autosomal recessive disorder due to a deficiency of galactose-1-P:uridyl transferase (GALT) (classic galactosemia), galactokinase (GALK) or UDP-galactose-4 epimerase (GALE). GALT deficiency results in the accumulation of galactose-1-P in tissues, which damages the liver, eye, brain, ovary and kidney. In GALK deficiency galactose may be converted into galactitol which can cause cataract. Only a minority of patients with GALE deficiency have clinical symptoms which are similar to classic galactosemia. Although there is continuous endogenous production of galactose in affected individuals, the long-term treatment remains a diet restricted in galactose

UR - https://www.scopus.com/pages/publications/85132518065

U2 - 10.1016/b978-0-12-818766-1.00094-5

DO - 10.1016/b978-0-12-818766-1.00094-5

M3 - Entry for encyclopedia/dictionary

AN - SCOPUS:85132518065

SN - 9780128187678

VL - 5

SP - 853

EP - 858

BT - Encyclopedia of Dairy Sciences

A2 - McSweeney, P. L. H.

A2 - McNamara, J. P.

PB - Elsevier

ER -

Galactosemia

Abstract

Access to Document

Other files and links

Fingerprint

Cite this