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    SERAC1 gene mutation presented with markedly alpha fetoprotein elevation: Case report
    (Springer Heidelberg, 2023) Bayrak, Harun; Sezer, Abdullah; Danış, Ayşegül; Özhan, Selen Has; Yıldız, Harun; Kılıç, Mustafa
    SERAC1 (Serine active site-containing 1, MIM: 614725) gene is located on chromosome 6q25.3. SERAC1 protein is a membrane protein containing 654 amino acids. It contains a serine lipase domain and belongs to the PGAG-like protein family, which plays a crucial role in mitochondrial function. SERAC1 protein has a role in intracellular cholesterol and phospholipid trafficking of action [1]. SERAC1 mutations as the cause of MEGD(H)EL syndrome (MIM: 614739) are an autosomal recessive mitochondrial disease associated with 3-methylglutaconic aciduria, dystonia, deafness, (hepatopathy), encephalopathy, with Leigh-like syndrome.