galactosemia

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Related to Galt deficiency: Galactosaemia

ga·lac·to·se·mi·a

 (gə-lăk′tə-sē′mē-ə)
n.
An inherited metabolic disorder characterized by deficiency of an enzyme necessary for the metabolism of galactose, a sugar found in milk, milk products, many legumes, and organ meats. The disorder results in elevated levels of galactose in the blood and can lead to intellectual disability and eye and liver abnormalities.

ga·lac′to·se′mic adj.
American Heritage® Dictionary of the English Language, Fifth Edition. Copyright © 2016 by Houghton Mifflin Harcourt Publishing Company. Published by Houghton Mifflin Harcourt Publishing Company. All rights reserved.

ga•lac•to•se•mi•a

(gəˌlæk təˈsi mi ə)

n.
an inherited disorder characterized by the inability to metabolize galactose and necessitating a galactose-free diet.
[1930–35]
ga•lac`to•se′mic, adj.
Random House Kernerman Webster's College Dictionary, © 2010 K Dictionaries Ltd. Copyright 2005, 1997, 1991 by Random House, Inc. All rights reserved.
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.galactosemia - a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth
inborn error of metabolism - any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
Based on WordNet 3.0, Farlex clipart collection. © 2003-2012 Princeton University, Farlex Inc.
Translations

ga·lac·to·se·mi·a

[MIM*230400]
n. galactosemia, ausencia congénita de la enzima necesaria para la conversión de galactosa a glucosa o sus derivados.
English-Spanish Medical Dictionary © Farlex 2012

galactosemia

n galactosemia
English-Spanish/Spanish-English Medical Dictionary Copyright © 2006 by The McGraw-Hill Companies, Inc. All rights reserved.
References in periodicals archive ?
Although the disease is observed with the deficiency any of the three enzymes involved in the metabolism of galactose, GALT deficiency is observed most commonly.
Unfortunately, despite dietary restriction of galactose intake, some patients with GALT deficiency eventually show persistent increases in erythrocyte concentration of galactose-1-phosphate and in the excretion of urinary galactitol (10).
We measured GALE activity in lymphoblasts with the HPLC method described earlier (3) for 30 cell lines, of which 2 were derived from healthy controls, 6 were derived from patients with GALT deficiency, and 22 were derived from patients who demonstrated diminished GALE activity in hemolysates.
Subsequent to the recognition of GALT deficiency, 2 additional enzymatic defects of galactose metabolism that also caused galactose accumulation were identified.