A Clinical Case of a Homozygous Deletion in the Gene with Severe Hypertriglyceridemia.

Background: Hypertriglyceridemia (HTG) is one of the most common forms of lipid metabolism disorders. The leading clinical manifestations are pancreatitis, atherosclerotic vascular lesions, and the formation of eruptive xanthomas. The most severe type of HTG is primary (or hereditary) hypertriglyceridemia, linked to pathogenic genetic variants in LPL, APOC2, LMF1, and APOA5 genes.

A novel mutation in the gene in a family from Dagestan with members affected by Zellweger spectrum disorder.

Background: Peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive disorders that affect multiple organ systems. Approximately 80% of PBD patients are classifiedin the Zellweger syndrome spectrum, which is generally caused by mutations in the , or genes.

Methods: We present the clinical characteristics of three male members with cholestatic hepatopathy and developmental delay.