ALLMedicine™ Adenylosuccinate Lyase Deficiency Center
Research & Reviews 9 results
Orphanet Journal of Rare Diseases; Mastrogiorgio G, Macchiaiolo M et. al.
Mar 3rd, 2021 - Adenylosuccinate lyase deficiency (ADSLD) is an ultrarare neurometabolic recessive disorder caused by loss-of-function mutations in the ADSL gene. The disease is characterized by wide clinical variability. Here we provide an updated clinical profi...
Clinical Neurology and Neurosurgery; Cakmak Celik F, Ozlu MM et. al.
Jan 27th, 2021 - A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing.|2021|Cakmak Celik F,Ozlu MM,Ceylaner S,|
European Journal of Medical Genetics; Andelman-Gur MM, Saitsu H et. al.
Sep 6th, 2020 - Adenylosuccinate lyase deficiency is a rare autosomal recessive disorder of purine metabolism. The disorder manifests with developmental delay, postnatal microcephaly, hypotonia, involuntary movements, epileptic seizures, ataxia and autistic featu...
Journal of Inherited Metabolic Disease; Jurecka A, Zikanova M et. al.
Aug 13th, 2014 - Adenylosuccinate lyase ADSL) deficiency is a defect of purine metabolism affecting purinosome assembly and reducing metabolite fluxes through purine de novo synthesis and purine nucleotide recycling pathways. Biochemically this defect manifests by...
Brain & Development; Chen BC, Balasubramaniam S et. al.
Sep 24th, 2013 - Lesch-Nyhan disease (LND) is a rare X-linked recessive neurogenetic disorder caused by deficiency of the purine salvage enzyme hypoxanthine phosphoribosyltransferase (HPRT, EC 22.214.171.124) which is responsible for recycling purine bases into purine nu...