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PubMed1981

Evaluation of a nation-wide neonatal metabolic screening programme in Sweden 1965-1979.

In Sweden, neonatal screening for phenylketonuria was started in 1965 and a total of 1 326 000 infants were studied up to 1979. During various periods of time, screening was also carried out for galactosaemia, hereditary tyrosinaemia, histidinaemia, and homocystinuria. In screening for phenylketonuria and galactosaemia no false-negative results were obtained and the incidences were 1/30 850 and 1/81 100, respectively. In screening for hereditary tyrosinaemia only 1 out of 6 patients was identified by screening and the incidence was 1/106 710. Two cases of histidinaemia were detected, which corresponds to an incidence of 1/36 840. Both children developed normally without any treatment. No child with homocystinuria was detected in the screened population of more than 300 000 newborn infants. A screening programme involving phenylketonuria and galactosaemia was considered to be optimal among the tested disorders.

Evaluation Studies as Topic↗
PubMed1996

Neuropsychological and linguistic follow-up studies of children with galactosaemia from an unscreened population.

Many galactosaemics appear to have neuropsychological and/or linguistic problems in spite of dietary treatment. Because the neonatal screening program in Norway does not include galactosaemia, we have re-examined Norwegian galactosaemics. Of 16 known patients, 8 patients participated in the study. They had been diagnosed between 2 and 11 weeks of age, and were between 9 months and 19 years old at the time of this study. All had very low or 0 activity of galactose-1-phosphate uridyl transferase. As part of the study all were examined neurologically, and had an age-appropriate developmental/IQ test, an ABR and an EEG, and a comprehensive psycholinguistic evaluation. The three youngest patients had normal developmental/IQ tests, while the five older patients had IQ scores in or below low range of normal. The majority had delayed language development and three patients were classified as having verbal dyspraxia. ABR and EEG showed mild pathology in the oldest patient only. Galactosaemia appears to be associated with significant risks of developmental and language delays in this unscreened population.

Adolescent↗
PubMed1997

Carbohydrate-deficient transferrin in galactosaemia.

Carbohydrate-deficient isoforms of transferrin (CDT) were examined in Guthrie cards from patients with galactosaemia before and during dietary treatment for up to 9 y. In untreated patients the CDT values were elevated due to abnormal asialo- and/or disialotransferrin. During treatment, the CDT levels were normal except on a few temporary occasions. Galactose or its close metabolites did not inhibit two relevant glycosyltransferases in vitro, and their levels were not correlated to the CDT values. The transferrin isoform changes in untreated patients were similar to, but less pronounced than in CDG syndrome type I.

Biomarkers↗
PubMed2005

Erythrocyte membrane acetylcholinesterase, Na+, K+-ATPase and Mg2+-ATPase activities in patients with classical galactosaemia.

BACKGROUND: Classical galactosaemia is commonly presented by high blood galactose (Gal) and galactose-1-phosphate (Gal-1-P) levels followed by mental retardation, seizures, etc. dependent on the mutation of the patients. AIM: To evaluate Gal and Gal-1-P in the blood of patients and to correlate their levels with their erythrocyte membrane acetylcholinesterase (AChE), Na+,K+-ATPase and Mg2+-ATPase activities. METHODS: Blood was obtained from nine patients on poor diet (group B) followed by a 30-d strict diet (group A) and controls (group C) in order to evaluate Gal and Gal-1-P in Guthrie cards and to correlate their concentrations with the above enzyme activities, which were measured spectrophotometrically. RESULTS: With the patients on a "loose" diet, AChE, Na+,K+-ATPase and Mg2+-ATPase activities were found to be decreased, as compared with those on strict diet and controls. Significantly (p<0.01) inverse correlation coefficients of the enzyme activities were found with Gal-1-P levels. CONCLUSION: (a) AChE, Na+,K+-ATPase and Mg2+-ATPase activities were determined to be decreased in poorly controlled patients with classical galactosaemia. (b) The enzyme activities were inversely correlated with the Gal-1-P blood levels. (c) Since Na+,K+-ATPase in the erythrocyte membranes is the isomer of Na+,K+-ATPase distributed in many tissues and in the brain, evaluation of the enzyme activity in the erythrocytes could be a useful peripheral marker of Gal-1-P toxicity.

Acetylcholinesterase↗
PubMed1980

Galactosaemia with cataract and persistent hyaloid artery. A clinicopathological case report.

A boy with galactosaemia and bilateral cataract developed large intraocular haemorrhages in the left eye which was enucleated. Histologically a persistent hyaloid artery was demonstrated. This combination with galactosaemia seems not to have been described in the literature before. The haemorrhages are most likely secondary to the persistent hyaloid artery system. In addition, some foci of extramedullary haemopoiesis were demonstrated in the retina.

Arteries↗
PubMed1992

Muscle and nerve dysfunction in rats with experimental galactosaemia.

The effects of up to 4 months dietary supplementation with 40% galactose on muscle and nerve function were examined in rats. Galactitol, a polyol pathway metabolite, accumulated to high levels in both tissues. This led to changes similar to those found in experimental diabetes, which were largely prevented by treatment with an inhibitor of the first enzyme in the pathway, aldose reductase. For fast twitch extensor digitorum longus muscle there was weight loss, fibre damage, slowing of twitch time to peak, increased twitch tension, and reduced tetanic tension. There were no relaxation deficits. For slow twitch soleus there were no changes in tension production. However, contraction and relaxation for both twitch and tetanus were prolonged. Fatigue resistance was reduced after 1 week. Damage in soleus led to a reduction in mean fibre area after 2 months, which largely recovered by 4 months. There was a selective loss of fast oxidative glycolytic fibres. Histochemical staining for succinic dehydrogenase was normal in galactosaemic soleus, in contrast to the marked reduction seen in diabetes. Sciatic nerve conduction velocity was reduced after 2 months, particularly in normally fast conducting motor and sensory fibres. Resistance to hypoxic conduction block was increased in galactosaemic nerves to diabetic levels. It was concluded that polyol pathway hyperactivity is likely to contribute to the aetiology of diabetic myopathy and neuropathy, and that experimental galactosaemia provides a good model in which to study pathway effects without the complicated hormonal changes found in diabetes.

Adenosine Triphosphatases↗
PubMed1992

Polyol pathway-mediated changes in cardiac muscle contractile properties: studies in streptozotocin-diabetic and galactose-fed rats.

Contractile properties of left ventricular papillary muscles and atria from streptozotocin-diabetic and from non-diabetic rats fed a 40% galactose diet were measured in vitro. There was a characteristic slowing of twitch responses for both tissues and both treatments (P < 0.05). Time to peak contraction was prolonged by 18-33% and maximum rate of contraction was reduced by 10-17%. Relaxation was also affected, with a 13-37% increase in half-relaxation time and a 7-25% reduction in the maximum rate of relaxation. There were treatment differences between papillary muscles and left atrium, diabetes having a more marked effect on the former, whereas galactosaemia caused more pronounced changes in the latter. The resting beat rate of the right atrium was 22% reduced in diabetic and galactosaemic rats (P < 0.01). When maximally stimulated with isoprenaline, beat rate did not rise to the level of stimulated controls (P < 0.01). Papillary muscle speed-related contractile properties also showed a reduced response to isoprenaline in diabetic and galactosaemic groups compared to normal controls. The greatest deficit was found for maximum rate of relaxation where responsiveness was 41 and 34% less for diabetic and galactosaemic groups respectively (P < 0.01). Polyol pathway metabolites in diabetic ventricles were increased 8-fold. In galactosaemic rats galactitol accumulation led to a 530-fold increase in polyols. The data suggest that polyol pathway activity may be an important factor in the aetiology of contractile and chronotropic changes in diabetic and galactosaemic cardiomyopathy.

Animals↗
PubMed1973

Polyol accumulation in galactosemic and diabetic rats: control by an aldose reductase inhibitor.

An orally active inhibitor of aldose reductase, 1,3-dioxo-1H-benz[de]-isoquinoline-2(3H)acetic acid (AY-22,284), prevented cataractous changes in cultured lenses exposed to high concentrations of galactose. When given orally, AY-22,284 markedly decreased the accumulation of polyols in the lenses and sciatic nerves of galactosemic rats and rats with streptozotocin-induced diabetes. In addition, treatment of galactosemic rats with AY-22,284 effectively suppressed the formation of cataracts.

Acetates↗
PubMed1983

Potential role of galactokinase in neonatal carbohydrate assimilation.

Glucose given to the newborn human may result in hyperglycemia, suggesting that its utilization is impaired at this developmental stage. Galactose is thought to be a more appropriate carbohydrate source for the newborn. The enzymes involved in hexose phosphorylation may, in part, be responsible for these observations. A key regulatory enzyme of hepatic glucose assimilation, glucokinase, is diminished in newborns compared to adults, whereas galactokinase activity is increased. When newborn dogs were fasted and then fed either glucose or galactose, their plasma insulin responses to glucose were similar, but the pups fed galactose demonstrated an attenuated systemic appearance rate of glucose. Hexose incorporation into hepatic glycogen and net glycogen synthesis was augmented in the galactose-fed dogs. In vitro, liver from neonatal dogs showed enhanced galactokinase activity relative to that for hexokinase or glucokinase. Neonatal hexose assimilation may be independent of insulin action and, instead, be related to the developmental presence of hexose phosphorylating enzymes.

Adult↗
PubMed1977

Inhibitory action of galactose on phagocytes from normal and hypergalactosemic chicks.

The inhibitory effect of galactose on phagocyte function was investigated in normal and hypergalactosemic chicks by monitoring the in vitro killing of Escherichia coli by leukocytes and the in vivo clearance of colloidal 125I-labeled bovine serum albumin ([125I]BSA) from the circulation. Elevated levels of galactose (30 mM) significantly impaired the bactericidal activities of leukocytes from both control and hypergalactosemic chicks. However, the latter cells were more susceptible to the galactose-dependent inhibition. Leukocytes from hypergalactosemic chicks displayed near-normal bactericidal activity when assayed in vitro under simulated normal conditions in the absence of galactose. Mean corrected phagocytic indexes, obtained from data on the clearance of colloidal [125I]BSA, were calculated to be 0.358 and 0.299 for control and hypergalactosemic chicks, respectively. Moreover, increased concentrations of galactose significantly impaired the bactericidal activity of circulating leukocytes but did not significantly affect the phagocytic activity of the reticuoendothelial system.

Animals↗
PubMed2004

High tolerance for oral galactose in classical galactosaemia: dietary implications.

AIM: To study the relevance of restricting the exogenous intake of small amounts of galactose, such as from fruit and vegetables, in patients with classical galactosaemia. METHODS: For a period of six weeks, increasing doses of oral galactose to a maximum of 600 mg per day, were added to a very strict galactose restricted diet in three adolescent patients homozygous for the Q188R mutation. During the study, physical examination, including an extended ophthalmic examination, and laboratory studies were performed on a weekly basis. RESULTS: No significant change in any of the studied clinical or biochemical parameters was observed. CONCLUSIONS: These findings provide further evidence that attempts to exclude trace amounts of galactose from the diet are not justified. Once the diet is made more liberal, a long term follow up study will be necessary.

Administration, Oral↗