AHCY : adenosylhomocysteinase

Understanding the AHCY Gene: A Crucial Enzyme in Amino Acid Metabolism and Beyond


The AHCY gene plays a vital role in human health by providing instructions for producing S-adenosylhomocysteine hydrolase (SAH hydrolase). This enzyme is essential in the breakdown of the amino acid methionine, a building block of proteins. SAH hydrolase specifically controls the conversion of S-adenosylhomocysteine to adenosine and homocysteine.

Associated Diseases

Mutations in the AHCY gene have been linked to several disorders, including:

  • Homocystinuria: A rare metabolic disorder characterized by high levels of homocysteine in the blood
  • Isolated homocysteine elevation: A milder condition with elevated homocysteine levels but no clinical symptoms

Did you Know ?

Approximately 1 in 100,000 newborns have homocystinuria, highlighting the importance of proper AHCY gene function.

Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.