Ontology highlight
ABSTRACT:
SUBMITTER: Mastrangelo M
PROVIDER: S-EPMC6713842 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Molecular genetics and metabolism reports 20190821
We describe a 7-year-old boy presenting with a developmental encephalopathy, severe epilepsy, retinopathy with salt and pepper fundus, and ultrastructural skin alterations resembling a neuronal ceroid lipofuscinosis. Whole exome-sequencing detected biallelic variants in the <i>ADSL</i> gene (c.65C > T [p.(Ala22Val)] and c.340 T > C [p.(Tyr114His)]). The increase of SAICAR and S-Ado in blood and urine was consistent with the pattern of adenylosuccinate lyase deficiency (OMIM 103050). An unusual i ...[more]