Attenuated Adenylosuccinate Lyase Deficiency: A Report of One Case and a Review of the Literature

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10285458" target="_blank" >RIV/00216208:11110/14:10285458 - isvavai.cz</a>

Result on the web

<a href="http://dx.doi.org/10.1055/s-0033-1337335" target="_blank" >http://dx.doi.org/10.1055/s-0033-1337335</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1055/s-0033-1337335" target="_blank" >10.1055/s-0033-1337335</a>

Result language

angličtina

Original language name

Attenuated Adenylosuccinate Lyase Deficiency: A Report of One Case and a Review of the Literature

Original language description

A 9-year follow-up of a patient with an attenuated (type II) adenylosuccinate lyase deficiency with no obvious signs of disease progression and degradation. We also review the literature, focusing on attenuated phenotype, and we report a positive effectof a ketogenic diet on seizure control. The patient presented at the age of 5 months with a history of global developmental delay. Screening of urinary purine metabolites revealed elevation of succinyladenosine and succinylaminoimidazolecarboxamide riboside (a ratio of 2:1). Mutation analysis revealed a compound heterozygosity for missense mutations: p.R426H and p.D268H. She began to walk independently at the age of 3 years. From the age of 4 years, her communication skills improved and she presented fewer autistic features. Due to poor results in seizure control, the ketogenic diet was introduced at the age of 7 years, resulting in reduction of seizure frequency. Currently, at the age of 9 years, the girl is attending a special kinderg

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FB - Endocrinology, diabetology, metabolism, nutrition

OECD FORD branch

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Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2014

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Neuropediatrics

ISSN

0174-304X

e-ISSN

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Volume of the periodical

45

Issue of the periodical within the volume

1

Country of publishing house

DE - GERMANY

Number of pages

6

Pages from-to

50-55

UT code for WoS article

000331123000009

EID of the result in the Scopus database

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