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GTR Home > Conditions/Phenotypes > Adenylosuccinate lyase deficiency

Adenylosuccinate lyase deficiency

Synonyms
Adenylosuccinase Deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Adenylosuccinase deficiency is an autosomal recessive inborn error of metabolism caused by an enzymatic defect in de novo purine synthesis (DNPS) pathway. ADSL deficiency leads to the accumulation of toxic intermediates, including succinyladenosine (S-Ado) and succinylaminoimidazole carboxamide riboside (SAICAr) in body fluids. There are 3 major phenotypic forms of the disorder that correlate with different values of the S-Ado and SAICAr concentration ratios (S-Ado/SAICAr) in the cerebrospinal fluid. These include the most severe fatal neonatal encephalopathy (S-Ado/SAICAr ratio less than 1); childhood form (type I) with severe psychomotor retardation (S-Ado/SAICAr ratio close to 1), and a milder form (type II) with psychomotor retardation or hypotonia (S-Ado/SAICAr ratio greater than 2) (summary by Baresova et al., 2012). [from OMIM]

Available tests

65 tests are in the database for this condition.

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Clinical tests (65 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AMPS, ASASE, ASL, ADSL
    Summary: adenylosuccinate lyase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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