Disease relevance of PYGL

• Our findings demonstrate that PYGL mutations cause Hers disease, and they may improve laboratory diagnosis of deficiencies of the liver phosphorylase system [1].
• Intermittent and recurrent hepatomegaly due to glycogen storage in a patient with type 1 diabetes: genetic analysis of the liver glycogen phosphorylase gene (PYGL) [2].

High impact information on PYGL

• We also report corrections of the PYGL coding sequence, sequence polymorphisms, and a partial PYGL gene structure with introns in the same positions as in PYGM, the gene of the muscle isoform of phosphorylase [1].
• Mennonite GSD6 was linked to the PYGL locus with a multipoint LOD score of 4 [3].
• (Y15233), however, the nucleotide sequence of PYGL cDNA was heterozygous for substitutions at positions Asp339 (GAT to GAC) on exon 9 and Ala703 (GCT to GCC on exon 17, respectively [2].
• Deduced amino acid sequence of the PYGL in this patient was completely identical to that reported by Burwinkel et al [2].

Analytical, diagnostic and therapeutic context of PYGL

• Confirmation of the genomic mutation was performed by sequencing RT-PCR products, which showed heterogeneous PYGL mRNA lacking all or part of exon 13 in affected persons [3].

References