Short chain acyl-CoA dehydrogenase deficiency
Synonyms: ACADS deficiency | SCAD deficiency | SCADD
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive hypotonia seizures developmental delay and progressive myopathy.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
Newly diagnosed with
Short chain acyl-CoA dehydrogenase deficiency?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
To fund research for treatment and/or a cure for CASK Gene Disorder
For a list of clinical trials in this disease area, please click here.