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Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages are performed. Isovaleric aciduria is an organic aciduria characterized by abnormal leucine metabolism resulting from a deficiency in the enzyme isovaleryl-CoA dehydrogenase. Niemann-Pick disease Type C is a rare autosomal recessive inherited disorder involving the intracellular transport of endocytosed cholesterol with sequestration of unesterified cholesterol in lysosomes and late endosomes. Both of these disorders are rarely encountered inborn errors of metabolism. We report a case of a boy with marked jaundice and hepatosplenomegaly, who was later diagnosed as isovaleric aciduria and Niemann-Pick disease Type C concomitantly. The diagnoses were proven by genetic analyses. A novel mutation for Niemann-Pick Type C has also been defined in this case report.

Aim: Coronary heart disease is one of the most common causes of death around the world. The pathological process of coronary heart disease like atherosclerosis starts in childhood. During this period thrombosis constitutes a high-risk factor. In this study, we investigated the effect of soluble CD40 ligand (sCD40L) and clotting activation on children and adolescents with hypercholesterolemia. Materials and Methods: Plasma levels of sCD40L, P-selectin, 8-hydroxy-2-deoxyguanosine (8-OHdG), and prothrombin fragment 1+2 [(F) 1+2] were determined in thirty-five hypercholesterolemic patients (20 girls and 15 boys; age, median: 13 years) and forty healthy normocholesterolemic subjects (28 girls and 12 boys; age, median: 13 years). Results: No significant differences were observed between the patient group and controls in terms of age, high-density lipoprotein (HDL) cholesterol, 8-OHdG, F1+2 (p>0.05). However, there were significant differences between the two groups with respect to total cholesterol, low-density lipoprotein (LDL) cholesterol, very LDL cholesterol, triglycerides, sCD40L and P-selectin (p0.05). Conclusion: We believe that future prospective studies to determine the increase in the level of sCD40L with a larger sample size of a pediatric population with dyslipidemias may be more helpful in predicting the risk of cardiovascular disease.