Overview of Lysosomal Storage Diseases in Kurdistan Region/ Iraq

Background and objectives:The lysosomal lipid storage diseases are diverse disorders each due to an inherited deficiency of a lysosomal hydrolase enzyme leading to the intralysosomal accumulation of the enzyme’s particular substrate; each catabolic step, with the exception of the catabolism of lactosylceramide, has a genetically determined metabolic defect and a resultant disease. The objective of this study was to have a better review of these diseases’ burden in the region. Methods:A data of 37 patients were collected from 2013 to 2017 in the cities of the region, namely (Sulaimany, Erbil, Duhok, and Kirkuk) retrospectively through establishing a questionnaire distributed to the families of patients in whom the disease was established, and diagnosis was settled, and treatment already initiated to the patients. Results: Gaucher and Mucopolysaccharidosis were equally the commonest (17 patients, 45.9%), lysosomal storage diseases were found to be more common in males (59.4%), and more in Kurdish descendants (75.7%). most patients were from Duhok city (43.2%). Consanguinity was positive in (83.8%) of patient’s parents. Twenty-four patients (64.9%) of overall lysosomal storage disease were receiving enzyme replacement therapy. Among patients receiving treatment; 20 (83.3%) had showed improvement in their condition, compared to none 0% of patients who did not receive treatment. abdominal distention was the most common first presenting complaint in lysosomal storage diseases (10 patients, 27%). Conclusions:Lysosomal storage diseases are more common in consanguine marriage and will respond well to enzyme replacement therapy if regularly provided, it will decrease mortality and morbidity due to the disease.