Search

Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy of unknown cause. Post‐mortem examination showed an unusual vacuolar appearance of the brain. A molecular autopsy performed via singleton clinical exome analysis revealed a known pathogenic and a variant of uncertain significance in ADSL that encodes adenylosuccinase. Tests on previously stored plasma samples showed elevated succinyladenosine and succinylaminoimidazole carboxamide riboside levels. Adenylosuccinase activity in stored fibroblasts was only ~5% of control confirming the diagnosis of adenylosuccinase deficiency in the child. The parents opted for a chorionic villus biopsy in a subsequent pregnancy and had a child unaffected by adenylosuccinase deficiency. This report adds vacuolating leukodystrophy as a novel feature of adenylosuccinase deficiency and shows the power of biochemical investigations directed by genomic studies to achieve accurate diagnosis. Importantly, this case demonstrates the importance of anticipatory banking of biological samples for reverse biochemical phenotyping in individuals with undiagnosed disorders who may not survive. [ABSTRACT FROM AUTHOR]

A lectin called Helianthus tuberosus agglutinin or Heltuba has been isolated from tubers of the Jerusalem artichoke, a typical representative of the Asteraceae family. Heltuba is a tetrameric protein composed of four identical subunits of 15.5 kDa and exhibits a preferential specificity towards oligomannosides. Cloning of the corresponding cDNAs revealed that the mature lectin polypeptide comprises the entire open reading frame of the cDNA suggesting that the primary translation product is not processed and that the lectin is a cytosolic protein. Searches in the databases revealed sequence similarity with lectins from the taxonomically unrelated Convolvulaceae and Moraceae species. Therefore, the discovery of Heltuba is of great importance in view of the occurrence and molecular evolution of the jacalin‐related lectins. [ABSTRACT FROM AUTHOR]