[Association of thrombopenia due to platelet alloimmunization with galactosemia in the neonatal period]. / Association d'une thrombopénie par allo-immunisation plaquettaire et d'une galactosémie en période néonatale.

The authors report on a newborn with two uncommon causes of bleeding. Platelet alloimmunization in PLA system was associated with galactosemia proved by the galacto uridyltransferase assay. The immediate outcome was favourable. The authors discuss the problem of diagnosis raised by this association.

[Ovarian insufficiency in congenital galactosemia]. / L'insuffisance ovarienne de la galactosémie congénitale.

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.

[Ovarian insufficiency and galactosemia ]. / Insuffisance ovarienne et galactosémie congénitale.

A primitive gonadal failure was observed in 2, 20 and 18 years old galactosemic female patients. The conditions was clinically suspected because of primary amenorrhea in one case and delayed puberty, followed by spaniomenorrhea in the other case, and confirmed by very low plasma estradiol and very high plasma gonadotropin levels. Galactose-free diet was started at 9 months of age in the first case and soon after birth in the second. Several similar cases have been recently reported. Primitive gonadal failure associated with galactosemia suggests a possible toxic' destruction of the ovaries during the intrauterine life by a galactose metabolite.

[Congenital galactosemia detected by severe Escherichia coli infections]. / Infections graves à colibacille révélatrices de galactosémie congénitale.

Three babies with untreated galactosaemia presented with severe coliform infections in the first month of life. The frequency of coliform infections in untreated patients is emphasised. Galactosaemia should be considered in any baby with a severe coliform infection.

[Ophthalmologic follow-up examination in galactosemia (author's transl)]. / Ophthalmologische Verlaufsbeobachtung bei Galaktosämie.

In 1966, Thalhammer foundet "The Austrian Newborn Screening Program." Since 1969, we have examined 18 infants with galactosemia at 6 month to 8 year intervals. Even dense lens opacities often disappear with the correct dietary adjustment; progression of the cataract indicates failure to adhere to the prescribed diet.

Biochemical expression of the galactosemic defect in lymphocytes and the effects on glycoprotein synthesis.

Incorporation of radioactive galactose, fucose, mannose, glucosamine, and N-acetylmannosamine into acid-precipitable glycoproteins of purified peripheral blood lymphocytes froom three patients with congenital galactosemia, their healthy parents, and control subjects have been measured. In the galactosemic lymphocytes, the incorporation of galactose into acid-precipitable glycoproteins was less than 7% of values obtained with controls and the presumed heterozygotes. The incorporation of other sugars into the glycoprotein fraction did not differ significantly from normal. Attempts to demonstrate a deficiency in cell-surface galactose groups proved negative. Galactosemic lymphocytes responded well to galactose-binding mitogens and were fully sensitive to a galactose-binding toxic lectin. We conclude that a defect in the galactose-1-phosphate uridyl transferase pathway to uridine diphosphate-galactose does not affect appreciably normal carbohydrate chain assembly in galactosemic lymphocytes. However, we cannot rule out minor changes which might account for the decreased responsiveness to serotonin in an experimental animal model of galactosemia. The approaches used in this paper may be useful in detecting other inborn errors of carbohydrate metabolism.