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- W16637949 abstract "X-linked liver glycogenosis type I (XLG I) is due to a deficiency of phosphorylase kinase (PHK), a key enzyme in the control of glycogen breakdown. XLG I is the most common glycogen storage disease. Patients show hepatomegaly, growth retardation and elevation of liver enzymes as their main clinical symptoms. We assigned the XLG I gene to the chromosomal region Xp22 by linkage analysis in six XLG I families. As the liver {alpha}-subunit of PHK (PHKA2) was also localized to Xp22, PHKA2 was considered a candidate gene for XLG I. In this study, we searched for mutations in 6 exons of the PHDA2 gene of 9 unrelated XLG I patients by SSCP analysis. This revealed three point mutations present in three different patients. Two of these mutations introduce a premature stop codon leading to a truncated protein. The third mutation abolishes a 5{prime} splice site consensus sequence leading to exon skipping. All three mutations therefore result in a PHKA2 protein that lacks several amino acids, what most probably affects enzyme function or stability. These findings indicate that PHKA2 is the XLG I gene." @default.
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- W16637949 date "1994-09-01" @default.
- W16637949 modified "2023-09-24" @default.
- W16637949 title "Mutations in PHKA2 are responsible for X-linked liver glycogen storage disease" @default.
- W16637949 hasPublicationYear "1994" @default.
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