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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 5 with seizures (tonic seizures and spasms) that are resistant to treatment (refractory), global developmental delay, autism, and intermittent problems with coordination (gait ataxia) (read full description).
Nov 10, 2020
aldehyde dehydrogenase 1 family member L2
The ALDH1L2 gene codes for a 10-formyltetrahydrofolate dehydrogenase (FDH) that is responsible for converting 10-formyltetrahydrofolate to tetrahydrofolate and CO2 via a NADP(+)-dependent reaction. It plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell (Krupenko et al., 2010).
A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!