Hepatomegaly: A Major Clinical Sign in Some Metabolic Disorders

This study included 18 cases with hepatomegaly referred to the Human Genetics Department, National Research Centre with a suspicion of a metabolic disorder from 2006 to 2008. The aim of our study was to find out the importance of hepatomegaly as sign for many metabolic disorders and their frequency among other disorders with hepatomegaly. All cases were subjected to clinical and biochemical studies. 12 cases, 66%, (10 males 83.4% and 2 females 16.6%) were diagnosed with a metabolic disease. 8 cases with mucopolysaccharidosis (MPS) (3 cases MPS I, 3 cases MPS II, one case MPS III and one case MPS VI); one case with glycogen storage disease (GSD); one case with galactosemia and 2 cases with Niemann-Pick disease type C. 75% of the diagnosed cases showed positive consanguinity and the remaining 25% were three patients with MPS II with an X linked mode of inheritance.