title: Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.
abstract: We found that the missense mutation p.Pro1205Leu in the PHKA2 gene is a common cause of hepatic phosphorylase-kinase deficiency in Dutch patients, suggesting a founder-effect. Most patients presented with isolated growth delay and diarrhea, prior to the occurrence of hepatomegaly, delaying diagnosis. Tetraglucoside excretion correlated with disease severity and was used to follow compliance. The clinical presentation and therapeutic requirements in the same mutation carriers were variable, and PhK deficiency necessitated tube-feeding in some children.
authors.affiliation: Department of Pediatrics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, The Netherlands.
authors.forename: Samira
authors.initials: S
authors.lastname: Achouitar
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Goldstein
authors.forename: Miski
authors.initials: M
authors.lastname: Mohamed
authors.forename: Stephanie
authors.initials: S
authors.lastname: Austin
authors.forename: Keri
authors.initials: K
authors.lastname: Boyette
authors.forename: Francoise M
authors.initials: FM
authors.lastname: Blanpain
authors.forename: Catherine W
authors.initials: CW
authors.lastname: Rehder
authors.forename: Priya S
authors.initials: PS
authors.lastname: Kishnani
authors.forename: Saskia B
authors.initials: SB
authors.lastname: Wortmann
authors.forename: Martin
authors.initials: M
authors.lastname: den Heijer
authors.forename: Dirk J
authors.initials: DJ
authors.lastname: Lefeber
authors.forename: Ron A
authors.initials: RA
authors.lastname: Wevers
authors.forename: Deeksha S
authors.initials: DS
authors.lastname: Bali
authors.forename: Eva
authors.initials: E
authors.lastname: Morava
mesh_terms: D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D018703:Founder Effect; D056726:Genetic Association Studies; D006529:Hepatomegaly / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D010764:Phosphorylase Kinase / Q000172:deficiency* / Q000235:genetics*
chemical_list: D010764:Phosphorylase Kinase