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Articles by Randa Bassiouni
Total Records ( 1 ) for Randa Bassiouni
  Hala T. El-Bassyouni , Adel M. Ashour , Afaf Ezzat , Randa Bassiouni and Ekram M. Fateen
  Galactosemia is an autosomal recessively inherited disorder of galactose metabolism. It has good prognosis, if detected in neonatal period or early infancy. Treatment consists of life long dietary restriction of galactose. Present study included eight patients with galactosemia on dietary treatment, five of them had galactose-1-phosphate uridyltransferase deficiency known as classical galactosemia and three had uridine-diphosphate galactose-4` epimerase deficiency. Clinical evaluation of patients under galactose restricted diet and assessment of the antioxidant status in response to dietary therapy was done. 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 levels of zinc, copper, iron, calcium, phosphate, magnesium, selenium, manganese, ß-carotene and vitamin A were evaluated in the blood of galactosemic patients on galactose restricted diet and a comparison between trace elements, ß-carotene and vitamin A in studied patients with galactosemia and controls was done. Copper, calcium, phosphate, manganese and ß-carotene levels in blood were significantly decreased in our patients (p<0.001) than in controls. These findings suggest that patients on galactose restricted diet are at risk of oxidative stress. The data emphasize the importance of dietary supplementation with an antioxidant containing ß-carotene, calcium, copper, selenium and manganese to inhibit oxidative stress in these patients. Consequently this will minimize the neurological deficits improve bone mineralization, reduce the development of retinopathy and damage to liver cells in patients with galactosemia.
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