Adenylosuccinate lyase deficiency
Open accessAbstract
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 the disease 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, microcephaly, early onset of seizures, and autistic features. A more slowly progressing form has also been described (type II, moderate or mild form), as having later onset, usually within the first years of life, slight to moderate psychomotor retardation and transient contact disturbances. Diagnosis is facilitated by demonstration of SAICAr and S-Ado in extracellular fluids such as plasma, cerebrospinal fluid and/or followed by genomic and/or cDNA sequencing and characterization of mutant proteins. Over 50 ADSL mutations have been identified and their effects on protein biogenesis, structural stability and activity as well as on purinosome assembly were characterized. To date there is no specific and effective therapy for ADSL deficiency.
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Different amino acid changes around the site of an AMH-specific derived protein, ADSL (A429V), can bring about adenylosuccinate lyase deficiency (R426H; D430N), the symptoms of which include developmental delay, autistic-like traits, aggressiveness, and microcephaly.
“Different amino acid changes around the site of an AMH-specific derived protein, ADSL (A429V), can bring about adenylosuccinate lyase deficiency (R426H; D430N [118]), the symptoms of which include developmental delay, autistic-like traits, aggressiveness, and microcephaly [119].”
From Self-domestication in Homo sapiens: Insights from comparative genomics (2017) · cites this paper as [119]
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Self-domestication in Homo sapiens: Insights from comparative genomics
Theofanopoulou, C., Gastaldon, S., O’Rourke, T., Samuels, B. D., Messner, A., Martins, P. T., Delogu, F., Alamri, S., & Boeckx, C. (2017) · PLOS ONE · doi:10.1371/journal.pone.0185306 · Cited by 174 · see citing works
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- Authors
- Jurecka, A., Zikanova, M., Kmoch, S., & Tylki‐Szymańska, A.
- Affiliations
- Charles University (CZ)
- Institute of Inherited Metabolic Disorders, First Faculty of Medicine Charles University, General University Hospital Prague Czech Republic
- Corresponding author
- Jurecka, Agnieszka
- Venue
- Journal of Inherited Metabolic Disease
- Publisher
- Wiley
- Published
- 2014-08-12
- Volume
- 38
- Issue
- 2
- Pages
- 231-242
- ISSN
- 0141-8955 (ISSN-L)
- 1573-2665
- PMC
- PMC4341013
- OpenAlex
- W2172087298
- Cited by
- 139
- References
- 82
- Citations by year
- 2026: 13 · 2025: 14 · 2024: 10 · 2023: 15 · 2022: 14 · 2021: 11 · 2020: 16 · 2019: 15 · 2018: 10 · 2017: 13 · 2016: 4 · 2015: 2 · 2014: 1
- FWCI
- 0.63
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Journal of Inherited Metabolic Disease (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- Univerzita Karlova v Praze (PRVOUK-P24/LF1/3, UNCE 204011, P24/LF1/3)
- Grantová Agentura České Republiky (GPP305/12/P419, UNCE 204011)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Biochemical and Molecular Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Keywords
- adenylosuccinate lyase deficiency, purine metabolism, de novo purine synthesis, neonatal encephalopathy, psychomotor retardation, seizures, autistic traits, microcephaly, diagnosis, treatment
- MeSH terms
- Adenylosuccinate Lyase, Animals, Autistic Disorder, Diagnosis, Differential, Genetic Testing, Humans, Mutation, Phenotype, Predictive Value of Tests, Prognosis, Purine-Pyrimidine Metabolism, Inborn Errors, Risk Factors, Disease Progression, Genetic Predisposition to Disease
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