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PubMed1999

Galactosaemia in black South African children.

OBJECTIVE: To evaluate the clinical and biochemical features of all black children confirmed to have galactosaemia from the KwaZulu Natal Province of South Africa. DESIGN: Prospective laboratory study. SUBJECTS: These included all black children with the presenting clinical features suggestive of the diagnosis of galactosaemia. SETTING: Department of Chemical Pathology, King Edward VIII Hospital, Durban, South Africa. METHOD: In each case, urine was screened for the presence of a reducing substance using urinary dipstick followed by thin layer chromatography to establish the presence of galactosaemia. The diagnosis of galacotosaemia was then confirmed by analysis of galactose-1 phosphate uridyl transferase (GALT) activity in the erythrocytes using the established Beutler enzyme assay procedure. Age and sex-matched samples were used as controls for GALT activity. The presenting clinical features of each patient on admission were also recorded. INTERVENTIONS: Patients confirmed to have galactosaemia were immediately placed on a galactose free diet. RESULTS: The age distribution of affected individuals varied from six weeks to 27 months with 60% of the children being males. The most common presenting clinical features were jaundice in 77% of the patients, failure to thrive 62%, and cataracts 54%. Four patients had complete absence of GALT activity. Two infants who displayed acute toxicity symptoms and positive urine galactose, exhibited normal GALT activity. CONCLUSION: GALT deficiency is the most common form of galactosaemia in black children in the KwaZulu Natal region. Cases of galactokinase or epimerase enzyme deficiency appear to be present. Further investigation is required to establish the occurrence and prevalence of the latter in affected individuals in this region.

Age Distribution↗
PubMed1999

Galactosaemia in an infant: case report.

Galactosaemia is a disorder of galactose metabolism in which raised levels of galactose and galactose-l-phosphate damage various organs. It is a very rare disease (incidence 1 in 60,000) and the diagnosis is often missed, leading to poor prognosis. A case of clinical galactosaemia that was diagnosed at the age of 11 months is reported. It is important to be aware of this condition as early treatment may prevent some of the complications.

Galactosemias↗
PubMed1975

Carbohydrate digestion and absorption studies in the horse.

The ability of the horse to digest and absorb soluble carbohydrates was assessed using a series of oral disaccharide tolerance tests followed in the same animals by tolerance tests with the constituent monosaccharides. In horses older than three years, lactose did not produce an increase in the plasma glucose levels but induced the passing of soft faeces, indicating that adult horses are lactose intolerant. Horses of all ages could absorb the glucose: galactose mixture without any change in the faeces. The tolerance is due to a failure to hydrolyse lactose and does not involve the monosaccharide transport systems. These findings correspond to the known development pattern of brush border lactase activity in the equine small intestine. Both sucrose and maltose were rapidly hydrolysed, the resulting tolerance curves closely approximating to those for the constituent monosaccharides. Galactose was absorbed at a similar rate to glucose, although a dose of 1g/kg was necessary to produce galactosaemia. An oral lactose tolerance test (1 g/kg as a 20 per cent solution) could be of clinical value to determine small intestinal mucosal damage in diarrhoeic foals when the continued ingestion of lactose might be detrimental.

Animals↗
PubMed1975

Galactosaemia.

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Child, Preschool↗
PubMed1975

Liquid-chromatographic analysis for neutral carbohydrates in serum glycoproteins.

We describe a sensitive, reproducible procedure of analysis for the six neutral carbohydrates in glycoproteins, by high-resolution anion-exchange chromatography. As many as 16 neutral carbohydrates can be separated by elution with a concentration gradient of boric acid (pH 7, 67 to 672 mmol/liter). The carbohydrates are detected with a cerate oxidimetric detector system, which monitors the fluorescence of Ce3+ produced by the reaction of the eluted constituents with Ce4+. Sensitivity to 1 nmol of fucose is demonstrated. Analytical methods and results are presented for mannose, fucose, and galactose in serum glycoproteins for both normal women and those with metastatic breast cancer. We briefly discuss the possibility of separating and analyzing for the three neutral carbohydrates in serum glycoproteins in 4 h by isocratic (constant eluent concentration) elution from a chromatographic column.

Anion Exchange Resins↗
PubMedDate not supplied

Inhibitory effect of lycopene on cataract development in galactosemic rats.

This study investigated the effect of antioxidants on cataract formation in galactosemic rats. Two antioxicants were compared: lycopene, a carotenoid derived from tomato, and butylated hydroxytoluene (BHT), a known antioxidant substance. The control group was fed with galactose 30%. The experimental groups received, in addition to galactose 30%, either lycopene 0.8% or BHT 0.2%. Cataractogenesis was evaluated by the incidence of cataract, grading of cataract, histology of the lenses, aldose reductase (AR) activity, protein levels, and reduced glutathione (GSH) contents in the lens. In both experiemtal groups: 1) the incidence and grading of cataract were lower, 2) the protein levels and GSH content were higher, and 3) the AR was decreased compared to the control group. In conclusion, "natural antioxidants" such as lycopene derived from tomato have a similar effect as BHT in delaying cataractogenesis in rats.

Aldehyde Reductase↗
PubMed1976

Serum-free and protein-bound sugars and cardiovascular complications in diabetes mellitus.

Free and protein-bound serum sugars and serum lipids were analyzed in 65 adult diabetic patients, 10 age-matched controls, and 24 male medical students for correlation of carbohydrate changes with the extent of retinal, renal, and cardiovascular disease. In diabetic sera, both protein-bound sugars and free mannose, fucose, and hexosamine were significantly elevated; free galactose and inositol were elevated in some diabetic patients, and essentially undetectable in sera from controls. Serum triglycerides and pre-beta-lipoproteins were also elevated in diabetics, but alpha-lipoproteins decreased. Although no specific relationships were observed with the extent of retinal and renal disease, bivariate analyses by Pearson coefficients of correlation showed correlations between levels of serum-free mannose and systolic blood pressure, free hexosamine and duration of diabetes, and serum protein-bound fucose and age. Serum triglycerides and pre-beta-lipoprotein levels correlated with insulin therapy. These are preliminary leads of laboratory studies related to carbohydrate macromolecular changes which might aid in a better understanding of the cardiovascular complications associated with diabetes.

Adult↗