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PubMed1984

[Ovarian insufficiency in congenital galactosemia].

Primary ovarian failure was observed in 2 sisters aged 17 and 4 years respectively presenting with congenital galactosaemia. The diagnosis of ovarian failure, clinically suggested in the older girl by the absence of puberty, was confirmed in both cases by a massive increase of baseline and post-stimulation plasma gonadotrophins. The elder sister had extremely low plasma oestradiol levels, and her ovaries were reduced to two strips of fibrous stroma almost devoid of follicles. In both cases the other endocrine glands seemed to be normal. Since the younger girl had received a galactose-free diet from birth, exogenous galactose toxicity could be ruled out. It appears from an analysis of the other 5 published reports that a metabolite of endogenous galactose is responsible for the ovarian lesions. The toxic effects of this metabolite may begin during intra-uterine life or after-birth.

Adolescent↗
PubMedDate not supplied

[A case of galactosemia caused by galactokinase deficiency].

The authors describe an original case of galactokinase deficiency, born from a gypsies' family. He developed cataracts in the first two months of life. No other pathological features were observed. One of the brothers of the propositus was also blind for cataracts. The authors discuss the biochemical differences among the varieties of galactosaemia, and their relationship with the clinical differences.

Galactokinase↗
PubMed1983

[Non-enzymatic glycosylation of hemoglobin and serum protein in children with galactosemia].

Non-enzymatic galactosylation has been investigated by in vitro incubation of red cell haemolysate, a HbAo-preparation and of GBM of healthy children. The effects of non-enzymatic galactosylation of haemoglobin has been studied by high pressure liquid chromatography, the effects of GBM galactosylation by immunoelectrophoresis. Subsequently, the occurrence of elevated values for HbAIa-c and GSP was evaluated in 14 galactosaemic children (11 transferase deficiency, 3 galactokinase deficiency), as well as urinary acid glycosaminoglycae excretion and GBM immunoelectrophoretic mobility in 6 of these 14 children measured. The results were compared to the respective values of healthy control children. After exclusion of significant non-enzymatic glucosylation by measuring postprandial blood glucose values the galactosaemic children showed significantly increased values for HbAIa-c (8.85 +/- 2.0% versus 7.7 +/- 0.3%; p less than 0.02), for GSP (0.43 +/- 0.13 mmol 5-HMF/mg protein versus 0.32 +/- 0.07 mmol 5-HMF/mg protein; p less than 0.005) as well as for urinary acid glycosaminoglycane excretion (45.3 +/- 23.4 micrograms/mg kreatinine versus 9.9 +/- 2.3 micrograms/mg Kreatinine; p less than 0.01). 3 out of the 6 children showed alpha 1-immunoelectrophoretic mobility of GBM antigens which was found also after incubation of GMB with galactose. The other 3 children had alpha 2-immobility, which was found in the healthy controls as well as in the control incubations. The impact of galactose on increased non-enzymatic glycosylation in children with galactosaemia as well as the significance of this finding for diagnostic purposes or for clarifying pathophysiological aspects of the disease remains to be studied further.

Adolescent↗
PubMed1978

[Galactosemia].

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Galactosemias↗