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GA1 is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan catabolism caused by deficiency of mitochondrial glutaryl-CoA dehydrogenase, first described in 1975.10 The population frequency has been estimated at 1 in 30 000 neonates in a Scandinavian study.11 It is biochemically characterized by elevated urinary excretion of glutaric acid, 3-hydroxyglutaric acid, and glutarylcarnitine, reduced plasma carnitine, and reduced or absent glutaryl-CoA dehydrogenase activity in fibroblasts and leukocytes . Molecular studies show that a wide variety of mutations in the human glutaryl-CoA dehydrogenase gene are responsible for causing the disease

Therapy is directed at dietary manipulation. A reduced lysine/tryptophan diet, carnitine and riboflavin supplementation, and aggressive management of catabolic states including episodes of fever or vomiting are said to modify the progress of the disease.This dietary control needs to be instituted early or in presymptomatic patients, although clear benefits of low protein diets beyond the age of 4 years are still to be shown