The aim of our study was to investigate the prevalence of LAL (lysosomal acid lipase) deficiency in patients with primary hyperlipidemia. Twenty-four patients with primary hyperlipidemia were included in the study. The gender, age, height, weight, body mass index and waist circumference of the patients were recorded. Lipid profiles, glucose, transaminases and LAL enzyme profiles were evaluated. LAL enzyme deficiency was not detected in patients with primary hyperlipidemia. In our study, when we investigated LAL deficiency in primary hyperlipidemic patients, we could not find a relationship between them. As a result of our study, LAL deficiency was not detected in patients with primary hyperlipidemia. However, in this context, there is a need to work with a large number of patients.
Key words: Primary hyperlipidemia, lysosomal acid lipase deficiency
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