Asymptomatic pediatric presentation of S‐adenosylhomocysteine hydrolase deficiency [PDF]
JIMD ReportsS‐adenosylhomocysteine hydrolase deficiency is an autosomal recessive inborn error of metabolism affecting methylation by disrupting the methionine cycle.
Patrícia Lipari Pinto +4 more
doaj +4 more sources
Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency. [PDF]
PLoS ONE, 2016 S-adenosylhomocysteine hydrolase (AHCY) deficiency is a rare autosomal recessive disorder in methionine metabolism caused by mutations in the AHCY gene.
Antje Motzek +10 more
doaj +6 more sources
Higher S-adenosylhomocysteine and lower ratio of S-adenosylmethionine to S-adenosylhomocysteine were more closely associated with increased risk of subclinical atherosclerosis than homocysteine [PDF]
Frontiers in Nutrition, 2022 AimTo examine the relationship of C1 metabolites of the methionine cycle with the risk of subclinical atherosclerosis (SA) in the Chinese population.MethodsA total of 2,991 participants aged 45–75 years old were included for data analyses based on the ...
Jinghe Xiao +10 more
doaj +2 more sources
The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency [PDF]
Molecular Genetics and Metabolism Reports, 2022 S-Adenosylhomocysteine (SAH) hydrolase deficiency is an autosomal recessive disorder in methionine metabolism caused by pathogenic variants in the gene AHCY.
Yue Huang +2 more
doaj +2 more sources
Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology [PDF]
Frontiers in Pediatrics, 2022 IntroductionS-Adenosylhomocysteine hydrolase deficiency (SAHHD) is a rare inherited multisystemic disease with muscle involvement as one of the most prominent and poorly understood features. To get better insight into muscle involvement, skeletal muscles
Danijela Petković Ramadža +13 more
doaj +2 more sources
Analysis of S-Adenosylmethionine and S-Adenosylhomocysteine: Method Optimisation and Profiling in Healthy Adults upon Short-Term Dietary Intervention [PDF]
Metabolites, 2022 S-adenosylmethionine (SAM) is essential for methyl transfer reactions. All SAM is produced de novo via the methionine cycle. The demethylation of SAM produces S-adenosylhomocysteine (SAH), an inhibitor of methyltransferases and the precursor of ...
Aida Corrillero Bravo +12 more
doaj +2 more sources
Associations of S-Adenosylmethionine and S-Adenosylhomocysteine with Hepatocellular Carcinoma [PDF]
MetabolitesBackground: Hepatocellular carcinoma (HCC) is a leading cause of cancer-related deaths worldwide, increasingly arising in patients with metabolic dysfunction-associated steatotic liver disease (MASLD).
Naana N. Yalley +8 more
doaj +2 more sources
Elevated S-adenosylhomocysteine induces adipocyte dysfunction to promote alcohol-associated liver steatosis [PDF]
Scientific Reports, 2021 It has been previously shown that chronic ethanol administration-induced increase in adipose tissue lipolysis and reduction in the secretion of protective adipokines collectively contribute to alcohol-associated liver disease (ALD) pathogenesis.
Madan Kumar Arumugam +6 more
doaj +2 more sources
Selenium nanoparticles modulate histone methylation via lysine methyltransferase activity and S-adenosylhomocysteine depletion [PDF]
Redox Biology, 2023 At physiological levels, the trace element selenium plays a key role in redox reactions through the incorporation of selenocysteine in antioxidant enzymes.
Benoit Toubhans +14 more
doaj +2 more sources
Intracellular homocysteine metabolites in SLE: plasma S-adenosylhomocysteine correlates with coronary plaque burden [PDF]
Lupus Science and Medicine, 2021 Background and aims We hypothesised that intracellular homocysteine and homocysteine metabolite levels in patients with SLE are disproportionately elevated compared with the levels seen in healthy subjects and that they are independently associated with ...
Jessica Li +3 more
doaj +2 more sources