Article
Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
Molecular genetics and metabolism - 1 Mar 2014
Bali Deeksha S, Goldstein Jennifer L, Fredrickson Keri, Rehder Catherine, Boney Anne, Austin Stephanie, Weinstein David A, Lutz Richard, Boneh Avihu, Kishnani Priya S
Abstract excerpt
Liver phosphorylase b kinase (PhK) deficiency (glycogen storage disease type IX), one of the most common causes of glycogen storage disease, is caused by mutations in the PHKA2, PHKB, and PHKG2 genes. Presenting symptoms include hepatomegaly, ketotic hypoglycemia, and growth delay. Clinical severity varies widely. Autosomal recessive mutations in the PHKG2 gene, which cause about 10-15% of cases, have been...
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