glycogen storage disease type-IXc (autosomal liver glycogenosis)

Genetics

• caused by defects in PHKG2 gene

Clinical manifestations

• manifestations in infancy
• hepatomegaly
• growth retardation

Laboratory

• elevated serum ALT, serum AST
• lipid panel: dyslipidemia

More general terms

• glycogen storage disease type-IX

Additional terms

• phosphorylase kinase gamma subunit 2 (phosphorylase b kinase gamma catalytic chain testis/liver isoform, PHKG2, S/T kinase PSK-C3, PSK-C3)

Database

• OMIM: https://mirror.omim.org/entry/172471