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  • Title: Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis.
    Author: Beyzaei Z, Ezgu F, Imanieh MH, Geramizadeh B.
    Journal: J Pediatr Endocrinol Metab; 2022 Mar 28; 35(3):417-420. PubMed ID: 34727590.
    Abstract:
    OBJECTIVES: Glycogen storage diseases (GSDs) are heterogeneous disorders caused by various enzyme deficiencies. GSD type IX α2, the most common subtype of GSD IX, is due to a deficiency of hepatic phosphorylase kinase. Herein we will report a novel mutation in this disease with an unusual presentation. CASE PRESENTATION: we describe a 3-year-old boy who suffered from hepatomegaly, fatty liver disease, and liver cirrhosis. The cause of cirrhosis at a young age was unknown based on the laboratory data and liver biopsy, so we performed a targeted-gene sequencing (TGS) covering 450 genes involved in inborn metabolic diseases consisting of glycogen storage disorders genes with hepatic involvement. He was found out to have a rare novel pathogenic variant in the PHKA2 gene. CONCLUSIONS: This novel variant c.2226+2T > C expands the mutational spectrum of the PHKA2 gene. Also, severe liver damage (cirrhosis) in patients with GSD- IX α2 has rarely been reported, which needs further discussion. We hypothesize that unidentified PHKA2 variants may be a rare cause of childhood liver cirrhosis.
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