sphyngolipidosis in iran, a diagnostic and therapeutic challenge in the past two decades

because of the high rate of consanguineous marriages, metabolic disorders, both micromolecular and macromolecular types, are very prevalent in our population. they constitute a very important health problem in this community. they are mostly an enzymopathy or genetic disease. most of them are the result of a homozygous or compound heterozygous mutation in many different genes which are responsible for encoding specific enzymes inside the endosomes/ lysosomes of the cells. each enzyme should catalyze a metabolic reaction or degrade an intra-lysosomic molecule. result of the mutation in the coding genes may cause severe deficiency in the activity of the respective enzymes. the final consequence would be one of the different phenotypes that are called “enzymopathies”. we studied 186 families with 261 cases in the past 20 years. they were referred for evaluation and diagnosis of neurological and regressive disorders. the diagnosis in the index cases (after detailed clinical, biochemical, radiological, and imaging studies) was confirmed by enzyme assay in the genetic and metabolic department of the erasmus university located in rotterdam or centogen institute for molecular and biochemical diagnostics. prenatal diagnostic tests were carried out in 64 pregnancies and 16 affected fetuses were detected (about 25% of the pregnancies). in 284 families with 340 affected patients, the final diagnosis was one of the sphingoipidoses or mucopolysaccharidoses. in 23 families, micro-molecular metabolic diseases were detected. in 12 additional families, peroxisomal biogenesis disorders were the final diagnosis. in this paper, we will share our experience in metabolic disorders in iran. for some of these disorders, specific treatment is available and satisfactory results have been achieved by different centers. ert, srt, bm transplantation, sc transplantation, and gene therapy have been used in different types of sphingolipidosis and mucopolysaccharidosis. all of these procedures are applied for some selective cases and if the governmental sector and insurance companies support these unfortunate families, we will be able to assist all those who need treatment.