منابع مشابه
Prenatal 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...
متن کاملThe amino-aciduria in galactosaemia.
Excessive quantities of amino-acids have recently been found in the urine of infants with galactosaemia (Holzel, Komrower and Wilson, 1952; Bickel and Hickmans, 1952). At first sight, the occurrence of amino-aciduria in a condition known to be associated with severe liver damage would suggest that the amino-aciduria is of the 'overflow' variety, namely, that it occurs as the result of a rise of...
متن کاملDiagnosis of classical galactosaemia.
We report a child with classical galactosaemia whose diagnosis was missed until 12 weeks of age. The limitations of urine screening tests are discussed and the wider use of a qualitative enzyme assay for screening is recommended. Reference ranges for a quantitative enzyme assay using 14galacoste-1-phosphate as substrate are presented.
متن کاملPathophysiology 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...
متن کاملThe treatment of congenital galactosaemia.
Congenital galactosaemia is now a well recognized inborn error of metabolism and over 45 cases have been *recorded (Andersen, 1957; Bennett, 1958). The underlying defect is the absence of the enzyme phospho-galactose uridyl transferase (Isselbacher, 1957), which catalyses the first stage of the conversion of galactose-l-phosphate to glucose; this results in an inability to metabolize galactose,...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1953
ISSN: 0007-1161
DOI: 10.1136/bjo.37.11.655