Adenylosuccinate lyase deficiency
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F15%3A10294809" target="_blank" >RIV/00216208:11110/15:10294809 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/15:10294809
Result on the web
<a href="http://dx.doi.org/10.1007/s10545-014-9755-y" target="_blank" >http://dx.doi.org/10.1007/s10545-014-9755-y</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s10545-014-9755-y" target="_blank" >10.1007/s10545-014-9755-y</a>
Alternative languages
Result language
angličtina
Original language name
Adenylosuccinate lyase deficiency
Original language description
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 the presence in the biologic fluids of two dephosphorylated substrates of ADSL enzyme: succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado). More than 80 individuals with ADSL deficiency have been identified, but incidence of thedisease remains unknown. The disorder shows a wide spectrum of symptoms from slowly to rapidly progressing forms. The fatal neonatal form has onset from birth and presents with fatal neonatal encephalopathy with a lack of spontaneous movement, respiratory failure, and intractable seizures resulting in early death within the first weeks of life. Patients with type I (severe form) present with a purely neurologic clinical picture characterized by severe psychomotor retardation, microcephal
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
<a href="/en/project/GPP305%2F12%2FP419" target="_blank" >GPP305/12/P419: Molecular aspects of purinosome formation in physiological and pathological states</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Inherited Metabolic Disease
ISSN
0141-8955
e-ISSN
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Volume of the periodical
38
Issue of the periodical within the volume
2
Country of publishing house
NL - THE KINGDOM OF THE NETHERLANDS
Number of pages
12
Pages from-to
231-242
UT code for WoS article
000350360200004
EID of the result in the Scopus database
2-s2.0-84937251472