ArticleOrphanet journal of rare diseases2021
Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature.Epilepsia open · 2024Pooled it
- Allopurinol Treatment Improves Cognitive Skills, Adaptive Behavior, and Biochemical Markers in Young Patients With Adenylosuccinate Lyase Deficiency.Journal of inherited metabolic disease · 2025Trial
- A novel homozygous variant causing fatal neonatal adenylosuccinate lyase (ADSL) deficiency presenting with respiratory failure and encephalopathy.Maternal health, neonatology and perinatology · 2026Article
- Prenatal-Onset Lethal Adenylosuccinate Lyase Deficiency Diagnosed by Rapid Whole Genome Sequencing: A Case Report.Cureus · 2026Article
- Severe Prenatal Presentation of Adenylosuccinate Lyase Deficiency Caused by a Synonymous ADSL Variant Inducing Aberrant Splicing.Prenatal diagnosis · 2026Article
- Adenylosuccinate lyase in pancreatic ductal adenocarcinoma chemoresistance: from purine metabolism to metabolic vulnerability.Cancer drug resistance (Alhambra, Calif.) · 2026Review
- Metabolic functions for molecular chaperones and stress proteins in microcephaly.Cellular and molecular life sciences : CMLS · 2025Review
- Emerging role of complement system in the induction of neuroinflammation in adenylosuccinate lyase deficiency disorder.Brain, behavior, & immunity - health · 2025Review
- ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation.Cell reports · 2025Article
- The diagnosis and treatment of disorders of nucleic acid/nucleotide metabolism associated with epilepsy.Acta epileptologica · 2025Review
- Metabolic pathways and genes involved in treatable and non-treatable metabolic epilepsies. A comprehensive review and metabolic pathway analysis.Metabolic brain disease · 2025Review
- Case Report: Adenylosuccinate lyase deficiency type I caused by splicing disruption due to a novel missense variant in theFrontiers in genetics · 2025Article
- Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies.Molecular diagnosis & therapy · 2024Article
- Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCNFrontiers in genetics · 2024Article
- A Caenorhabditis elegans model of adenylosuccinate lyase deficiency reveals neuromuscular and reproductive phenotypes of distinct etiology.Molecular genetics and metabolism · 2023Article
- Article
- Inborn Errors of Purine Salvage and Catabolism.Metabolites · 2023Review
- Increased renal elimination of endogenous and synthetic pyrimidine nucleosides in concentrative nucleoside transporter 1 deficient mice.Nature communications · 2023Article
- In Silico Analysis of Changes in Predicted Metabolic Capabilities of Intestinal Microbiota after Fecal Microbial Transplantation for Treatment of RecurrentMicroorganisms · 2023Article
- Child with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in theWorld journal of clinical cases · 2022Article
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAdenylosuccinate lyase deficiency (ADSLD) is an ultrarare neurometabolic recessive disorder caused by loss-of-function mutations in the ADSL gene. The disease is characterized by wide clinical variability. Here we provide an updated clinical profiling of the disorder and discuss genotype-phenotype correlations.
resultsData were collected through "Our Journey with ADSL deficiency Association" by using a dedicated web survey filled-in by parents. Clinical and molecular data were collected from 18 patients (12 males, median age 10.9 years ± 7.3), from 13 unrelated families. The age at onset ranged from birth to the first three years (median age 0.63 years ± 0.84 SD), and age at diagnosis varied from 2 months to 17 years, (median age 6.4 years ± 6.1 SD). The first sign was a psychomotor delay in 8/18 patients, epilepsy in 3/18, psychomotor delay and epilepsy in 3/18, and apneas, hypotonia, nystagmus in single cases. One patient (sibling of a previously diagnosed child) had a presymptomatic diagnosis. The diagnosis was made by exome sequencing in 7/18 patients. All patients were definitively diagnosed with ADSL deficiency based on pathogenic variants and/or biochemical assessment. One patient had a fatal neonatal form of ADSL deficiency, seven showed features fitting type I, and nine were characterized by a milder condition (type II), with two showing a very mild phenotype. Eighteen different variants were distributed along the entire ADSL coding sequence and were predicted to have a variable structural impact by impairing proper homotetramerization or catalytic activity of the enzyme. Six variants had not previously been reported. All but two variants were missense.
conclusionsThe study adds more details on the spectrum of ADSLD patients' phenotypes and molecular data.
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