Pathophysiology of impaired ovarian function in galactosaemia
نویسندگان
چکیده
منابع مشابه
Pathophysiology of impaired ovarian function in galactosaemia.
Classical galactosaemia is an inherited inborn error of the major galactose assimilation pathway, caused by galactose-1-phosphate uridyltransferase (GALT) deficiency. Many GALT mutations have been described, with different clinical consequences. In severe forms, newborns present with a life-threatening, acute toxic syndrome that rapidly regresses under a galactose-restricted diet. However, long...
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15 صفحه اولOvarian failure in a young woman with galactosaemia.
Case History. The patient presented at age four weeks with abdominal distension secondary to ascites and hepatosplenomegaly. She was not jaundiced. Reducing sugars were detected in her urine and the diagnosis of galactosaemia was confirmed by finding low levels in the erythrocytes of galactose -1 phosphate uridyl transferase (0.04 units/g Hb, normal range 14-25 units/g Hb) and an intermediate v...
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متن کاملPrenatal diagnosis of galactosaemia.
We have monitored two pregnancies from families at risk for galactosaemia. The fetus was diagnosed as having galactosaemia in one and to be unaffected in the other. The accuracy of the predictions was confirmed postnatally. Assays for galactose 1-phosphate uridyl transferase involving the reduction of the coenzymes NAD or NADP are unsuitable for amniotic cells whereas estimation of (14)C-UDP-ga...
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ژورنال
عنوان ژورنال: Human Reproduction Update
سال: 2006
ISSN: 1460-2369,1355-4786
DOI: 10.1093/humupd/dml031