Galactose-1-phosphate uridylyltransferase galactosemia

Galactose-1-phosphate uridylyltransferase galactosemia
Galactose
ICD-10	E74.2
ICD-9	271.1
OMIM	230400
DiseasesDB	5056
eMedicine	ped/818
MeSH	D005693

WikiDoc Resources for Galactose-1-phosphate uridylyltransferase galactosemia
Articles
Most recent articles on Galactose-1-phosphate uridylyltransferase galactosemia Most cited articles on Galactose-1-phosphate uridylyltransferase galactosemia Review articles on Galactose-1-phosphate uridylyltransferase galactosemia Articles on Galactose-1-phosphate uridylyltransferase galactosemia in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on Galactose-1-phosphate uridylyltransferase galactosemia Images of Galactose-1-phosphate uridylyltransferase galactosemia Photos of Galactose-1-phosphate uridylyltransferase galactosemia Podcasts & MP3s on Galactose-1-phosphate uridylyltransferase galactosemia Videos on Galactose-1-phosphate uridylyltransferase galactosemia
Evidence Based Medicine
Cochrane Collaboration on Galactose-1-phosphate uridylyltransferase galactosemia Bandolier on Galactose-1-phosphate uridylyltransferase galactosemia TRIP on Galactose-1-phosphate uridylyltransferase galactosemia
Clinical Trials
Ongoing Trials on Galactose-1-phosphate uridylyltransferase galactosemia at Clinical Trials.gov Trial results on Galactose-1-phosphate uridylyltransferase galactosemia Clinical Trials on Galactose-1-phosphate uridylyltransferase galactosemia at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Galactose-1-phosphate uridylyltransferase galactosemia NICE Guidance on Galactose-1-phosphate uridylyltransferase galactosemia NHS PRODIGY Guidance FDA on Galactose-1-phosphate uridylyltransferase galactosemia CDC on Galactose-1-phosphate uridylyltransferase galactosemia
Books
Books on Galactose-1-phosphate uridylyltransferase galactosemia
News
Galactose-1-phosphate uridylyltransferase galactosemia in the news Be alerted to news on Galactose-1-phosphate uridylyltransferase galactosemia News trends on Galactose-1-phosphate uridylyltransferase galactosemia
Commentary
Blogs on Galactose-1-phosphate uridylyltransferase galactosemia
Definitions
Definitions of Galactose-1-phosphate uridylyltransferase galactosemia
Patient Resources / Community
Patient resources on Galactose-1-phosphate uridylyltransferase galactosemia Discussion groups on Galactose-1-phosphate uridylyltransferase galactosemia Patient Handouts on Galactose-1-phosphate uridylyltransferase galactosemia Directions to Hospitals Treating Galactose-1-phosphate uridylyltransferase galactosemia Risk calculators and risk factors for Galactose-1-phosphate uridylyltransferase galactosemia
Healthcare Provider Resources
Symptoms of Galactose-1-phosphate uridylyltransferase galactosemia Causes & Risk Factors for Galactose-1-phosphate uridylyltransferase galactosemia Diagnostic studies for Galactose-1-phosphate uridylyltransferase galactosemia Treatment of Galactose-1-phosphate uridylyltransferase galactosemia
Continuing Medical Education (CME)
CME Programs on Galactose-1-phosphate uridylyltransferase galactosemia
International
Galactose-1-phosphate uridylyltransferase galactosemia en Espanol Galactose-1-phosphate uridylyltransferase galactosemia en Francais
Business
Galactose-1-phosphate uridylyltransferase galactosemia in the Marketplace Patents on Galactose-1-phosphate uridylyltransferase galactosemia
Experimental / Informatics
List of terms related to Galactose-1-phosphate uridylyltransferase galactosemia

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Galactose-1-phosphate uridylyltransferase galactosemia (or type 1) is the most common type of galactosemia. It is caused by a deficiency in galactose-1-phosphate uridylyltransferase.

There are two variants of the GALT gene responsible for galactosemia.

• One variant causes so-called classic galactosemia, in which there is an extreme deficiency in galactose-1 phosphate uridyltransferase. It is an autosomal recessive condition. The gene for GALT was mapped at 9p13. Most serious conditions are prominent.
• The variant gene, responsible for Duarte galactosemia, leads to about half the normal levels of GALT. Individuals with Duarte galactosemia may experience few or none of the serious symptoms of classic galactosemia.

The severity of the symptoms is dependent on a number of factors, most importantly the amount of lactose in the individual's diet. It is also possible to have one each of the classic and Duarte genes, in which case GALT activity is intermediate.