Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis.

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.

• Authors: Zahra Beyzaei, Fatih Ezgu, Mohammad Hadi Imanieh, Bita Geramizadeh
• Journal: Journal of pediatric endocrinology & metabolism : JPEM (J Pediatr Endocrinol Metab) Vol. 35 Issue 3 Pg. 417-420 (Mar 28 2022) ISSN: 2191-0251 [Electronic] Germany
• PMID: 34727590 (Publication Type: Case Reports)
• Copyright: © 2021 Walter de Gruyter GmbH, Berlin/Boston.

Chemical References

• PHKA2 protein, human
• Phosphorylase Kinase

Topics

• Child, Preschool
• Glycogen Storage Disease (complications, genetics)
• Hepatomegaly (pathology)
• Humans
• Liver
• Liver Cirrhosis (complications, genetics, metabolism)
• Male
• Mutation
• Phosphorylase Kinase (genetics)