3-hydroxy-3-methylglutaric aciduria (Case report of two turkish sisters with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency)

3-Hydroxy-3-methylglutaric aciduria is a rare inborn error of metabolism, c aused by reduced enzyme activity of the intramitochondrial 3-hydroxy-3-meth ylglutaryl-CoA lyase. We describe two turkish sisters with this disease. In the older sister clinical symptoms with lethargy, convulsions, metabolic a cidosis, hypoglycemia and hyperammonemia lead to the diagnosis. The younger sister was diagnosed prenatally. The clinical course of our patients is co mpared with those reported in the literature with respect to clinical sympt oms, differential diagnosis and therapeutic regimens.