Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “GALACTOSEMIA”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,801 records · Page 100Linked to original sources
PubMed1986

Resistant ovary syndrome and premature ovarian failure in young women with galactosaemia.

Three young women with galactosaemia presented with amenorrhoea and elevated plasma levels of FSH and LH. Two of these women are sisters and ovarian biopsy confirmed premature ovarian failure in one and resistant ovary syndrome in the other. The history and ovarian histology suggested that the sister with ovarian failure may have progressed through a stage of 'follicle resistance' prior to follicular atresia. All subjects had specific bioassays for LH which were grossly elevated, and higher than the levels recorded by immunoassay.

Adult↗
PubMed1988

State screening for metabolic disorders in newborns.

Most states have mandatory screening programs for congenital and inherited disorders of metabolism. Physicians may be unaware of their state's requirements, and compiled lists of testing requirements are generally unavailable or incomplete. All states test for congenital hypothyroidism and phenylketonuria. Some states require that newborns be tested for up to six other specific congenital and inherited disorders of metabolism. Some states base their decision to test on demographic data, but there is no uniformity in the tests.

Adrenal Hyperplasia, Congenital↗
PubMed1987

Crystallin mRNA product levels in lens undergoing reversal and inhibition of galactose cataracts.

In our previous work, two-dimensional gel electrophoretic analysis of the translational products from mRNA of lens from rats maintained on 50% galactose up to 45 days has suggested that synthesis of mRNA was not arrested by the disease process, but it decreased significantly relative to the control. The loss in mRNA number was due mainly to loss in cell population. Specifically, the gamma-crystallin mRNA product decreased to very low levels at onset of the disease. However, this mRNA was resynthesized in the surviving cells as the cataracts matured. Therefore, it became of interest to explore whether reversal or inhibition of cataracts would lead to some measurable changes in mRNA population in the experimental lens. The results show that the percentage (relative to the total mRNA population) of the in vitro [35S]-labeled translational products from alpha-, beta- and gamma-crystallin mRNAs combined, remained unchanged irrespective of the state of the lens. The severity of the cataracts was examined by indirect immunofluorescence with polyclonal MP26 antibody. Reversal of cataracts led to partial recovery of normal fiber cell morphology. Treatment with sorbinil in combination with galactose led to inhibition of cataracts with indication of appearance of vacuoles at longer periods of exposure to the drug. The translational products profile reflected the expected variation in non-crystallin and crystallin mRNA synthesis. It is concluded that there appears to be a combined fixed level of synthesis for the crystallins, such that inhibition in synthesis of gamma-crystallin mRNAs appears to lead to an increase in synthesis of alpha-crystallin mRNAs, while synthesis of beta-crystallin mRNAs showed insignificant fluctuation. A similar conclusion may also be drawn relative to the combined synthesis for the non-crystallin mRNAs.

Cataract↗
PubMed1987

Galactosemic nephropathy in the rat.

The effect of 30% galactose feeding on kidney function and structure was compared to the effect of streptozotocin-induced diabetes in the rat. In the galactose-fed rats there was increased urine volume (500%), creatinine clearance (40%), urinary albumin excretion (100%), urinary N-acetyl glucosaminidase (600%) and relative kidney weight (21%). These changes were similar to that observed in streptozotocin-induced diabetic animals. Galactitol in the kidney cortex of galactose-fed rats was increased 4 times similar to that observed for sorbitol in the streptozotocin-induced diabetic animals. Glycosylated hemoglobins were also increased in both galactose-fed animals and streptozotocin-treated animals. These data suggest that galactose feeding may be a useful model for investigating some aspects of diabetic nephropathy.

Acetylglucosaminidase↗
PubMed1985

Utilization of galactose by human platelets in vitro.

The extent to which platelets can metabolize galactose has been unknown. We have studied this question by incubating platelets with radiolabeled galactose for periods of time and analyzing the cells for radioactive metabolites. The sugar was observed to accumulate quickly in cells isolated by filtration. Within seconds at room temperature, galactose metabolites were detectable by thin-layer chromatography, and within 20 minutes at 37 degrees C, radioactivity appeared in trichloroacetic acid (TCA) precipitates of the suspensions. The TCA-precipitable radioactivity was degraded by alpha-amylase as well as by protease. However, the TCA-soluble material released by protease digestion had an elution volume on Sepharose CL-4B too small for glycopeptides and in addition was degraded by alpha-amylase. The majority of the galactose metabolized by platelets, therefore, becomes incorporated into glycogen, rather than glycoprotein. The reversibility of the galactose metabolic pathway was demonstrated by the addition of an excess of the unlabeled sugar to the labeled platelets and by the effect of thrombin and collagen on the TCA-precipitable radioactivity.

Blood Platelets↗
PubMed1985

The dietary management of inborn errors of metabolism.

Many inborn errors have now been described that can be treated by alterations in diet. Such treatment requires an understanding of both the biochemistry of the defect and of normal nutritional requirements. The principal strategies are cofactor therapy, steps to prevent accumulation of toxic metabolites and the replacement of essential nutrients that are deficient as a result of the metabolic block. It is essential to make sure that any diet used for more than a brief period is complete and capable of sustaining normal growth and development. The treatment of disorders of carbohydrate and amino acid metabolism including organic acidaemias and disorders of the urea cycle and of fat oxidation are discussed.

Acute Disease↗

Refine your search to explore more results.