Generalized epimerase deficiency galactosemia.

Galactosemia is caused by inherited deficiencies in one of three enzymes involved in the metabolism of galactose: galactose- 1-phosphate uridyltransferase (GALT), galactokinase (GALK), and uridine diphosphate galactose-4-epimerase (GALE). The rarest and most poorly understood form of galactosemia is due to epimerase deficiency. We are reporting such a rarest form of galactosemia presenting with progressively increasing cholestatic jaundice and failure to thrive at one month of age. After confirmation of decreased epimerase level in RBC hemolysate, the patient was put on galactose restricted diet and vitamins supplementation, which reversed the clinical signs as well as altered liver function. Patient is on regular follow-up and now at 15 months of age he has no marked developmental delay.

effect of diet on antioxidant status in patients with galactosemia

Galactosemia is an autosomal recessively inherited disorder of galactose metabolism. It has a good prognosis, if detected in neonatal period or early infancy. Treatment consists of life long dietary restriction of galactose. Our study included eight patients with galactosemia on dietary treatment, five of them had galactose-1-phosphate unidyltransferase deficiency known as classical galactosemia and three had uridine-diphosphate galactose-4' epimerase deficiency. Delayed milestones were present in all patients, jaundice at birth was present in 4 and low birth weight was present in 3 patients. Craniofacial dysmorphism was present in 5 patients. Hepatomegaly was present in 6 patients. MRI of the brain showed brain atrophy in 3 patients and demyelination in 2 patients. There was cataract in 7 patients. The aim of this study was to asses the antioxidant status in response to dietary-therapy. The levels of zinc, copper and Iron, calcium, phosphate, magnesium, selenium, manganese, beta-carotene and vitamin A were evaluated in the blood of galactosemic patients on galactose restricted diet. Also, a comparison between trace elements, beta-carotene and vitamin A in studied patients with galactosemia and controls was done. Copper, calcium, phosphate, manganese and beta-carotene levels in blood were significantly decreased in our patients [p<0.001] than in controls. These findings suggest that treated galactosemic patients are at risk of oxidative stress and abnormal bone mineralization. Therefore, therapeutic intervention in these cases should be more appropriately targeted. The data emphasise the importance of antioxidants and trace elements in minimizing the neurological deficits in galactosaemic patients