ArticleOrphanet journal of rare diseases2013
Genetic basis of hyperlysinemia.
Article in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Mutation analysis of SUOX in isolated sulfite oxidase deficiency with ectopia lentis as the presenting feature: insights into genotype-phenotype correlation.Orphanet journal of rare diseases · 2022Pooled it
- Anaplerotic therapy in propionic acidemia.Molecular genetics and metabolism · 2017Trial
- Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1.Scientific reports · 2026Article
- Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies.Journal of clinical medicine · 2025Review
- Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsy.Molecular therapy. Nucleic acids · 2025Article
- Conjugated Polymers Based on Carbazole and Tridentate Ligands as the "On-Off-On" Fluorescent Probes for Detection of Ni (II) Ion and Lysine.Journal of fluorescence · 2025Article
- Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow.International journal of neonatal screening · 2025Article
- Targeting Lysine α-Ketoglutarate Reductase to Treat Pyridoxine-Dependent Epilepsy.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse.Brain communications · 2025Article
- LysineFrontiers in molecular neuroscience · 2025Review
- Mitochondrial Gene Scoring System: Predicting Prognosis and Precision Therapy for TACE Non-Response in Hepatocellular Carcinoma Patients.Journal of Cancer · 2025Article
- Engineered probiotic cocktail with two cascade metabolicFrontiers in microbiology · 2024Article
- A case of hyperlysinemia identified by urine newborn screening.JIMD reports · 2023Article
- Mouse models of NADK2 deficiency analyzed for metabolic and gene expression changes to elucidate pathophysiology.Human molecular genetics · 2022Article
- Characterization and structure of the human lysine-2-oxoglutarate reductase domain, a novel therapeutic target for treatment of glutaric aciduria type 1.Open biology · 2022Article
- The Metabolite Saccharopine Impairs Neuronal Development by Inhibiting the Neurotrophic Function of Glucose-6-Phosphate Isomerase.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2022Article
- Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?Frontiers in cell and developmental biology · 2022Review
- Saccharopinuria accompanied by hyperammonemia and hypercitrullinemia presented with elderly-onset epilepsy, progressive cognitive decline, and gait ataxia.Intractable & rare diseases research · 2021Article
- Fungal Enzyme l-Lysine α-Oxidase Affects the Amino Acid Metabolism in the Brain and Decreases the Polyamine Level.Pharmaceuticals (Basel, Switzerland) · 2020Article
- Next generation sequencing reveals novel homozygous frameshift inSaudi journal of biological sciences · 2020Article
Corrections and comments
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Authors and funding
15 authors at 8 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding α-aminoadipic semialdehyde synthase has been reported. We aimed to better define the genetic basis of hyperlysinemia.
methodsWe collected the clinical, biochemical and molecular data in a cohort of 8 hyperlysinemia patients with distinct neurological features.
resultsWe found novel causal mutations in AASS in all affected individuals, including 4 missense mutations, 2 deletions and 1 duplication. In two patients originating from one family, the hyperlysinemia was caused by a contiguous gene deletion syndrome affecting AASS and PTPRZ1.
conclusionsHyperlysinemia is caused by mutations in AASS. As hyperlysinemia is generally considered a benign metabolic variant, the more severe neurological disease course in two patients with a contiguous deletion syndrome may be explained by the additional loss of PTPRZ1. Our findings illustrate the importance of detailed biochemical and genetic studies in any hyperlysinemia patient.
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