ArticleJournal of inherited metabolic disease2016
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.
Article in Journal of inherited metabolic disease, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
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Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 67 citations in OpenAlex.
- International Guidelines for the Diagnosis and Management of Hyperinsulinism.Hormone research in paediatrics · 2024Guideline
- Dynamic control of nucleotide metabolism in physiology and disease.Nature cell biology · 2026Review
- ADK deficiency without hypermethioninemia presenting as intractable epilepsy: a rare neurometabolic case and literature review.Neurogenetics · 2026Review
- NRH, a potent NADMetabolism: clinical and experimental · 2025Article
- Identification and validation of diagnostic biomarkers for temporal lobe epilepsy related to ferroptosis and potential therapeutic targets.Scientific reports · 2025Article
- Integrated Functions of Cardiac Energetics, Mechanics, and Purine Nucleotide Metabolism.Comprehensive Physiology · 2023Article
- Inborn Errors of Purine Salvage and Catabolism.Metabolites · 2023Review
- Syndromic forms of congenital hyperinsulinism.Frontiers in endocrinology · 2023Review
- Adenosine-Metabolizing Enzymes, Adenosine Kinase and Adenosine Deaminase, in Cancer.Biomolecules · 2022Review
- Congenital Hyperinsulinism: Current Laboratory-Based Approaches to the Genetic Diagnosis of a Heterogeneous Disease.Frontiers in endocrinology · 2022Review
- Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights.Frontiers in pediatrics · 2022Article
- Hypoglycaemia Metabolic Gene Panel Testing.Frontiers in endocrinology · 2022Review
- Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke.JIMD reports · 2021Article
- S-adenosylmethionine induces mitochondrial dysfunction, permeability transition pore opening and redox imbalance in subcellular preparations of rat liver.Journal of bioenergetics and biomembranes · 2021Article
- Clinical utility of methionine restriction in adenosine kinase deficiency.JIMD reports · 2021Article
- Adenosine kinase: An epigenetic modulator in development and disease.Neurochemistry international · 2021Review
- Adenosine kinase: A key regulator of purinergic physiology.Biochemical pharmacology · 2021Review
- Computational exploration of vicine - an alkaloid glycoside mediated pathological hallmark of adenosine kinase to promote neurological disorder.Metabolic brain disease · 2021Article
- Metabolic Aspects of Adenosine Functions in the Brain.Frontiers in pharmacology · 2021Review
- Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management.Reviews in endocrine & metabolic disorders · 2020Review
Corrections and comments
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Authors and funding
16 authors at 11 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAdenosine kinase deficiency is a recently described defect affecting methionine metabolism with a severe clinical phenotype comprising mainly neurological and hepatic impairment and dysmorphism.
methodsClinical data of 11 additional patients from eight families with adenosine kinase deficiency were gathered through a retrospective questionnaire. Two liver biopsies of one patient were systematically evaluated.
resultsThe main clinical symptoms are mild to severe liver dysfunction with neonatal onset, muscular hypotonia, global developmental retardation and dysmorphism (especially frontal bossing). Hepatic involvement is not a constant finding. Most patients have epilepsy and recurrent hypoglycemia due to hyperinsulinism. Major biochemical findings are intermittent hypermethioninemia, increased S-adenosylmethionine and S-adenosylhomocysteine in plasma and increased adenosine in urine. S-adenosylmethionine and S-adenosylhomocysteine are the most reliable biochemical markers. The major histological finding was pronounced microvesicular hepatic steatosis. Therapeutic trials with a methionine restricted diet indicate a potential beneficial effect on biochemical and clinical parameters in four patients and hyperinsulinism was responsive to diazoxide in two patients.
conclusionAdenosine kinase deficiency is a severe inborn error at the cross-road of methionine and adenosine metabolism that mainly causes dysmorphism, brain and liver symptoms, but also recurrent hypoglycemia. The clinical phenotype varies from an exclusively neurological to a multi-organ manifestation. Methionine-restricted diet should be considered as a therapeutic option.
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