J. Hendrickx et al., MUTATIONS IN THE PHOSPHORYLASE-KINASE GENE PHKA2 ARE RESPONSIBLE FOR X-LINKED LIVER-GLYCOGEN STORAGE DISEASE, Human molecular genetics, 4(1), 1995, pp. 77-83
Phosphorylase kinase (PHK) is a key enzyme in the control of glycogen
breakdown. Several types of PHK deficiency have been described of whic
h X-linked liver glycogenosis type I (XLG I) is the most common, Since
the XLG I locus and the gene encoding the liver a-subunit gene of PHK
(PHKA2) have both been localized to Xp22, PHKA2 was a candidate gene
for XLG I. In this study we identified four point mutations in four un
related XLG I patients: three mutations introduce a premature stop cod
on, whereas the fourth mutation abolishes a splice site consensus sequ
ence leading to exon skipping, These findings indicate that PHKA2 is t
he XLG I gene.