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 +3 more sources
S-adenosylhomocysteine hydrolase over-expression does not alter S-adenosylmethionine or S-adenosylhomocysteine levels in CBS deficient mice [PDF]
Molecular Genetics and Metabolism Reports, 2018 Elevated plasma total homocysteine (tHcy) is associated with a number of human diseases including coronary artery disease, stroke, osteoporosis and dementia. It is highly correlated with intracellular S-adenosylhomocysteine (SAH).
Hyung-Ok Lee +5 more
doaj +4 more sources
S-adenosylhomocysteine and the ratio of S-adenosylmethionine to S-adenosylhomocysteine are not related to folate, cobalamin and vitamin B6 concentrations [PDF]
European Journal of Clinical Investigation, 2003 AbstractBackground It is unclear whether homocysteine itself is causal in the pathogenesis of cardiovascular disease. Alternatively or additionally, the association between homocysteine and cardiovascular disease may be because of its metabolic precursor, S‐adenosylhomocysteine, or of the ratio of S‐adenosylmethionine to S‐adenosylhomocysteine ...
Coen Stehouwer
exaly +9 more sources
Epigenetic modulation of Drp1-mediated mitochondrial fission by inhibition of S-adenosylhomocysteine hydrolase promotes vascular senescence and atherosclerosis [PDF]
Redox Biology, 2023 Aims: Vascular senescence, which is closely related to epigenetic regulation, is an early pathological condition in cardiovascular diseases including atherosclerosis.
Qiannan Liu, Jinghe Xiao
exaly +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 +4 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