ArticleMolecular genetics and metabolism2015
Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency.
Article in Molecular genetics and metabolism, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 43 citations in OpenAlex.
- Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency.PloS one · 2016Trial
- Ahcy Acts as an Effector of Hnf4a-Driven Super-Enhancer Activation to Alleviate MASLD During Intermittent Fasting.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- AHCY: A metabolic gatekeeper at the interface of methylation, redox balance, and cellular stress response.The Journal of biological chemistry · 2026Review
- Nicotinamide N-Methyltransferase (NNMT) and Liver Cancer: From Metabolic Networks to Therapeutic Targets.Biomolecules · 2025Review
- Dysmorphic Findings in SAHH Deficiency with a Novel Variant in theMolecular syndromology · 2024Article
- Asymptomatic pediatric presentation of S-adenosylhomocysteine hydrolase deficiency.JIMD reports · 2024Article
- Development of a chemiluminescent immunoassay based on magnetic solid phase for quantification of homocysteine in human serum.BMC biotechnology · 2024Article
- Effects of S-Adenosylhomocysteine Hydrolase Downregulation on Wnt Signaling Pathway in SW480 Cells.International journal of molecular sciences · 2023Article
- Inborn Errors of Purine Salvage and Catabolism.Metabolites · 2023Review
- The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency.Molecular genetics and metabolism reports · 2022Article
- Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology.Frontiers in pediatrics · 2022Article
- Homocysteine metabolism as the target for predictive medical approach, disease prevention, prognosis, and treatments tailored to the person.The EPMA journal · 2021Review
- S-adenosylmethionine induces mitochondrial dysfunction, permeability transition pore opening and redox imbalance in subcellular preparations of rat liver.Journal of bioenergetics and biomembranes · 2021Article
- Ketogenesis impact on liver metabolism revealed by proteomics of lysine β-hydroxybutyrylation.Cell reports · 2021Article
- Functional Common and RareCancer prevention research (Philadelphia, Pa.) · 2021Article
- Prognostic Value of Serum Exosomal AHCY Expression in Hepatitis B-Induced Liver Cirrhosis.Frontiers in medicine · 2021Article
- Functional and Pathological Roles of AHCY.Frontiers in cell and developmental biology · 2021Review
- Methionine metabolism in chronic liver diseases: an update on molecular mechanism and therapeutic implication.Signal transduction and targeted therapy · 2020Review
- Disruption of Brain Redox Homeostasis, Microglia Activation and Neuronal Damage Induced by Intracerebroventricular Administration of S-Adenosylmethionine to Developing Rats.Molecular neurobiology · 2019Article
- Signature of circular RNAs in peripheral blood mononuclear cells from patients with active tuberculosis.Journal of cellular and molecular medicine · 2019Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundThe etiology of liver disease remains elusive in some adults presenting with severe hepatic dysfunction. METHODS AND
resultsHere we describe a woman of Pakistani descent who had elevated aminotransferases at age 23. She developed muscle weakness in her mid-20s, and was diagnosed with hepatocellular carcinoma at age 29. She died without a diagnosis at age 32 after having a liver transplant. Exome sequencing revealed that she was homozygous for a missense mutation (R49H) in AHCY, the gene encoding S-adenosylhomocysteine (SAH) hydrolase. SAH hydrolase catalyzes the final step in conversion of methionine to homocysteine and inactivating mutations in this enzyme cause a rare autosomal recessive disorder, SAH hydrolase deficiency, that typically presents in infancy. An asymptomatic 7-year old son of the proband is also homozygous for the AHCY-R49H mutation and has elevated serum aminotransferase levels, as well as markedly elevated serum levels of SAH, S-adenosylmethionine (SAM), and methionine, which are hallmarks of SAH hydrolase deficiency.
conclusionThis report reveals several new aspects of SAH hydrolase deficiency. Affected women with SAH hydrolase deficiency can give birth to healthy children. SAH hydrolase deficiency can remain asymptomatic in childhood, and the disorder can be associated with early onset hepatocellular carcinoma. The measurement of serum amino acids should be considered in patients with liver disease or hepatocellular carcinoma of unknown etiology.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.