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On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
A change in this gene was identified in a female, age 9 with severe global developmental delay, muscle tone abnormalities, spasticity and cerebral folate deficiency (read full description).
Aug 20, 2020
Serine palmitoyltransferase small subunit A
SPTSSA codes for a protein subunit responsible for stimulating serine palmitoyltransferase activity, which initiates an important rate-limiting step in sphingolipid biosynthesis (Han et al., 2009).
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