Mutations in the ADKgene cause an autosomal recessive Hypermethioninemia due to adenosine kinase deficiency.
This website provides information on patients with mutations in the ADKgene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the ADKgene is a multisystem disorder characterized by global developmental delay, hypotonia, seizures, poor speech development, cerebral atrophy, white matter degeneration, intellectual disability, macrocephaly, hypertelorism, liver dysfunction, mild steatosis, and cholestasis.
Not all individuals with a mutation in the ADKgene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the ADKgene.
Majid Alfadhel, MD, Genetics and Precision Medicine Department (GPM), Medical Genomic Research Lab, King Abdullah International Medical Research Centre, King Saud Bin Abdulaziz University for Health Sciences, National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia, dralfadhelm@gmail.com
Muhammad Umair, PhD, Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia, umairmu@ngha.med.sa