S-adenosylhomocysteine hydrolase deficiency
A rare multisystemic inherited metabolic diseases characterized clinically by a variable spectrum of severity primarily comprised of psychomotor delay myopathy and liver dysfunction. Most patients present in infancy but the onset can be already in utero or in adult age. Hypermethioninemia is frequent but often absent in infancy. Creatine kinase is elevated in most patients.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024
Newly diagnosed with
S-adenosylhomocysteine hydrolase deficiency?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Clinical Trials
For a list of clinical trials in this disease area, please click here.