galactosemia

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Related to galactosemic: 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 ?
First of all, the disease known as alkaptonuria was discovered by Archibald Garrod, in 1908 [8,9] followed by a research in 1917 regarding the advice of less intake of the milk by the galactosemic infants, but the treatment of various disorders of IEM changed in the 1950s with phenylketonuria.
Ji et al., in their study entitled "Diosgenin, a Novel Aldose Reductase Inhibitor, Attenuates the Galactosemic Cataract in Rats," investigated the potentially protective role of diosgenin, an aldose reductase inhibitor (ARI), against the development of sugar cataract in rats.
Kinoshita, "Depletion of myo-inositol and amino acids in galactosemic neuropathy," Journal of Neurochemistry, vol.
Ismail, "Effects of topically applied tocotrienol on cataractogenesis and lens redox status in galactosemic rats," Molecular Vision, vol.
Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation.
A total of seven galactosemic children ranging in age from 1 to 7 years were included in the study.
GALACTOSEMIA FOUNDATION, FORMERLY PARENTS OF GALACTOSEMIC CHILDREN
Although galactosemic children are started on dietary restrictions at birth, there continues to be a high incidence of long-term complications involving speech and language, fine and gross motor skill delays, and specific learning disabilities.
The handling of soya alpha-galactosides by a normal and a galactosemic child.
We find approximately two or three galactosemic infants and four or five phenylketonurics each year.
Parent and family participation in a support group (i.e., Parents of Galactosemic Children) may prove to be beneficial (Jaszczak, 1996).