galactosemia


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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.

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.
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
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.

galactosemia

n galactosemia
References in periodicals archive ?
There are sometimes clear medical indications for a specialized formula, such as prematurity, milk-protein allergy, and galactosemia.
Una variedad de condiciones pueden dar lugar a hemorragias de la retina en lactantes y ninos pequenos, tales como: hemorragias retinianas perinatales, lesion en craneo no intencional, enfermedades hematologicas, galactosemia, infecciones como meningitis, citomegalovirus, herpes simple, toxoplasmosis, rickettsias, endocarditis, retinopatia del prematuro, resucitacion cardiopulmonar, contusion toracica, vasculitis, intoxicacion por monoxido de carbono, hipo e hipernatremia, hipertension, entre otras.
3) Subsequently, more diseases like congenital adrenal hyperplasia, galactosemia, biotinidase deficiency, G6PD deficiency, and cystic fibrosis were included in the screening program.
Mucopolisacaridosis Gangliosidosis Amiloidosis Deficiencia de alfa-1-antitripsina Enfermedad de Wilson Deposito de hierro Higado graso secundario a desnutricion, obesidad, fibrosis quistica, diabetes mellitus, galactosemia, Sindrome de Reye, drogas (etanol, esteroides, tetraciclina, acido valproico, antineoplasicos, etc.
Ten disorders accounted for an estimated 100 or more cases (phenylketonuria, 3-methylcrotonylCoA carboxylase deficiency, medium-chain acyl-CoA dehydrogenase deficiency, Hb SS, Hb SC, Hb S/a thalassemia, congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, and cystic fibrosis).
La espectrometria de masas en tandem es utilizada tambien para el diagnostico precoz de la galactosemia, las enfermedades por colestasis hepatobiliar, y las enfermedades de los peroxisomas.
Es una neoplasia benigna de origen epitelial predominante en mujeres jovenes, asociado con la ingesta de anticonceptivos orales y raramente asociado con esteroides anabolicos exogenos, galactosemia y enfermedad de deposito del glicogeno tipo Ia.
Testing urine for reducing substances offers a quick evaluation method for galactosemia (AAP, 2004; Berkowitz, 2000).
Jaundice beyond 3 weeks of age must be evaluated for elevated direct bilirubinemia and cholestasis and the newborn screen results should be checked for hypothyroidism and galactosemia.
En casos de galactosemia clasica, la ingesta de leche durante solo 4 a 8 semanas conduce al desarrollo de cataratas.
Babies with galactosemia (the inability to breakdown galactose -- milk sugar) shouldn't be breast-fed.
Richard Schreiner is a neonatologist who helped Indiana pass the law for screening all newborns for galactosemia.

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