Author/Editor		Mlinar, Barbara; Lukač-Bajalo, Jana
Title		Genetika galaktozemij z okvaro galaktoza-1-fosfat-uridiltransferaze
Translated title		Genetics of galactose-1-phosphate uridyltransferase deficient forms of galactosemia
Type		članek
Source		Farm Vestn
Vol. and No.		Letnik 51, št. 2
Publication year		2000
Volume		str. 289-94
Language		slo
Abstract		Galactose-1-phosphate uridyltransferase (GALT) is one of three key enzymes included in galactose metabolism. The most serious defect of GALT is classical galactosemia presenting with an incidence of 1/50.000 newboms and nearly undetectable enzyme activity in erythrocytes. The disease reveals with serious clinical signs after milk consumption. A long-life galactose-free diet is necessary to avoid death. Despite the diet older patients show neurological defects, mental retardation, cataract and ovarian failures. Classical galactosemia is inherited autosomal recessive disorder. The review article presents the most frequent among more than 150 mutations related to various forms of GALT deficient galactosemia: Q188R and K285N associated with classical galactosemia, S 135L as a cause of negro variant galactosemia and N314D related to Duarte variant galactosemia and recently investigated in association with ovarian cancer. Detecting mutations enables us to recognize a genetic origin of GALT deficient forms of galactosemia and, with aid of biochemical markers measured, asses how serious the disease is and what prognose is to be expected.
Summary		Galaktoza-l-fosfat-uridiltransferaza (GALT) je eden izmed treh ključnih encimov za presnovo galaktoze v telesu. Najresnejša okvara tega encima je klasična galaktozemija, ki se pojavlja pri 1/50.000 rojstev, zanjo pa je značilna skoraj nezaznavna aktivnost GALT v eritrocitih. Hudi klinični znaki se pri tej bolezni pojavijo kmalu po rojstvu ob uživanju mleka. Za preživetje je nujna dieta brez galaktoze. Kljub temu se pozneje v življenju pojavijo motnje v duševnem razvoju, nevrološke motnje, katarakta in okvare jajčnikov. Galaktozemije se dedujejo avtosomno recesivno. Pričujoči pregledni članek obravnava najpogostejše izmed več kot 150 znanih mutacij pri galaktozemijah z okvaro GALT: Q188R in K285N, značilni za klasično galaktozemijo, S135L kot vzrok črnske različice galaktozemije in N314D, povezano z galaktozemijo Duarte in po zadnjih raziskavah morebiti z rakom jajčnikov. S prepoznavanjem mutacij je dana možnost, da pri galaktozemijah z okvaro GALT poleg merjenja biokemičnih kazalcev prepoznamo genski vzrok bolezni in z obojim predvidimo njeno razsežnost in nadaljni potek.
Descriptors		GALACTOSEMIA GALACTOSEPHOSPHATE URIDYLYLTRANSFERASE GENOTYPE MUTATION