About 23 results

ALLMedicine™ Adenylosuccinate Lyase Deficiency Center

Research & Reviews  9 results

Clinical and molecular characterization of patients with adenylosuccinate lyase deficie...
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...

A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation ...
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,|

Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency.
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...

Adenylosuccinate lyase deficiency.
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...

Treatment of Lesch-Nyhan disease with S-adenosylmethionine: experience with five young ...
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 which is responsible for recycling purine bases into purine nu...

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