galactosemia

listen to the pronunciation of galactosemia
İngilizce - Türkçe
(Tıp) Galaktozun glikoza çevrilememesi ile birlikte seyreden bir metabolizma bozukluğu
İngilizce - İngilizce
A genetic metabolic disorder characterized by an inability to metabolize galactose properly
a hereditary disorder in which milk becomes toxic as food
An inherited metabolic disorder caused by a deficiency in the transferase enzyme This deficiency disrupts the metabolism of galactose, causing mental retardation and other medical problems Dietary restriction of galactose can reduce the severity of these problems
A rare hereditary disease leading not only to cirrhosis in infants, but more seriously, to early devastating illness if not diagnosed quickly
a disease characterized by the buildup of the sugar galactose in the bloodstream; the buildup occurs because the liver is unable to metabolize galactose If present at birth and left untreated, this condition results in sever mental and growth retardation
{i} any of three genetic disorders characterized by defective galactose metabolism resulting in an accumulation of galactose in the bloodstream (Medicine)
a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth
an inherited recessive disorder which is a disease tested for by newborn screening Dietary treatment is available for this disorder
Türkçe - İngilizce
(Tıp) Galaktosemi.Kanda Şeker birikmesi.Galaktozu parçalayarak Glikoza çevirmede ihtiyaç duyulan enzimlerden birinin eksikliği nedeniyle oluşur