- vomiting, poor feeding, poor weight gain, lethargy, irritability, convulsions, and opacities in the lenses of the eyes.
The signs detected include hepatomegaly (enlarged liver), hypoglycemia (low blood sugar), aminoaciduria (amino acids are present in the urine), cirrhosis, ascites (fluid collected within the abdomen), cataracts and mental retardation. The diagnosis is usually based on the demonstration of a lack of activity of the enzyme GALT in erythrocytes (red blood cells). Prenatal diagnosis is also feasible by direct measurement of the enzyme.
* * *1. [MIM*230400] An inborn error of galactose metabolism due to congenital deficiency of the enzyme galactosyl-1-phosphate uridylyltransferase, resulting in tissue accumulation of galactose 1-phosphate; manifested by nutritional failure, hepatosplenomegaly with cirrhosis, cataracts, mental retardation, galactosuria, aminoaciduria, and albuminuria that regress or disappear if galactose is removed from the diet; autosomal recessive inheritance; caused by mutation in the galactose-1-phosphate uridyltransferase gene (GALT) on 9p. SEE ALSO: galactokinase deficiency. 2. An inborn error in metabolism other than a deficiency in galactosyl-1-phosphate uridylyltransferase (see subentries below). SYN: galactose diabetes. [galactose + G. haima, blood]- epimerase deficiency g. an inborn error in metabolism in which there is a deficiency of uridine diphosphate galactose 4-epimerase; galactose 1-phosphate accumulates.- galactokinase deficiency g. an autosomal recessive disorder resulting in an accumulation of galactose and galactitol.- transferase deficiency g. an autosomal recessive disorder in which there is a deficiency of galactose-1-phosphate uridylyltransferase (see main entry for g.).
* * *ga·lac·tos·emia or chiefly Brit ga·lac·tos·aemia gə-.lak-tə-'sē-mē-ə n a metabolic disorder inherited as an autosomal recessive trait in which galactose accumulates in the blood due to deficiency of an enzyme catalyzing its conversion to glucosega·lac·tos·emic or chiefly Brit ga·lac·tos·aemic -mik adj
* * *ga·lac·tos·e·mia (gə-lak″to-seґme-ə) [galactose + -emia] a general term encompassing three autosomal recessive disorders resulting from defective galactose metabolism. Classic galactosemia, which is often fatal to neonates, is caused by mutations in the GALT gene (locus: 9p13), which encodes UDP-glucoseâ€“hexose-1-phosphate uridylyltransferase. Enzyme deficiency results in accumulation of galactose 1-phosphate and galactose, with cataracts, cirrhosis, hepatomegaly, vomiting, diarrhea, jaundice, poor weight gain, and malnutrition in infancy, and mental retardation in survivors. The other two disorders are galactokinase deficiency and UDP-glucose 4-epimerase deficiency (qq.v.).
Cataract associated with galactosemia, the opacity of the lens having an oil-droplet appearance.
Medical dictionary. 2011.
Look at other dictionaries:
Galactosemia — Classification and external resources Galactose ICD 10 E … Wikipedia
Galactosemia — Galactosa Clasificación y recursos externos CIE 10 E … Wikipedia Español
galactosemia — f. hemat. Presencia de galactosa en la sangre. ⊆ pediat. y genét. Alteración del metabolismo de los glúcidos heredada de forma autosómica recesiva y que está causada por la falta del enzima que transforma la galactosa en glucosa, lo que provoca… … Diccionario médico
galactosemia — galactosemia. См. галактоземия. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) … Молекулярная биология и генетика. Толковый словарь.
galactosemia — [gə lak΄tō sē′mē ə] n. [ GALACTOS(E) + EMIA] a congenital disease caused by the genetic lack of an enzyme needed to metabolize galactose into glucose and producing mental retardation, cataracts, and liver damage … English World dictionary
galactosemia — galactosemic, adj. /geuh lak teuh see mee euh/, n. Pathol. an inherited disorder characterized by the inability to metabolize galactose and requiring a galactose free diet to avoid consequent mental retardation and eye, spleen, and liver… … Universalium
galactosemia — noun Date: 1934 a metabolic disorder that is inherited as an autosomal recessive trait and in which galactose accumulates in the blood due to deficiency of an enzyme catalyzing its conversion to glucose • galactosemic adjective … New Collegiate Dictionary
galactosemia — noun A genetic metabolic disorder characterized by an inability to metabolize galactose properly … Wiktionary
galactosemia — n. any of three genetic disorders characterized by defective galactose metabolism resulting in an accumulation of galactose in the bloodstream (Medicine) … English contemporary dictionary
galactosemia — ga·lac·tos·emia … English syllables