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Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Universidad Autónoma de Yucatán

2004, Number 4

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Rev Biomed 2004; 15 (4)

Adenylosuccinate lyase deficiency: a brief overview

Yanes-Vallejera A, Monaga-Castillo M

Language: Spanish
References: 38
Page: 243-250
PDF size: 48.17 Kb.


ABSTRACT

Objetives. To provide general information on Adenylosuccinase lyase deficiency.
Sources of information. Books related to the theme, updated articles and the Internet.
Results. Adenylosuccinate lyase (ADSL) deficiency is an autosomal recessive inborn error in purine de novo synthesis pathway, characterized by the accumulation of succinyladenosine (S-Ado) and succinylaminoimidazolecarboxamida (SAICA) riboside in body fluids. Clinical signs include psychomotor retardation, convulsions, hypotonia, and autistic features. More than 20 mutations have been identified, R426H being the most frequent. Diagnosis can be carried out in prenatal or postnatal periods. No effective therapy is available.
Conclusions. The severity of the clinical signs as well as the absence of an available and effective treatment lead to the necessity for a deep search of information about this illness.


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