Seizures: Patients present with seizures that often begin in the first few days of life, vary in type, and are persistent.
Developmental delay: Patients may experience speech, motor, and/or cognitive delays.
SLC13A5 deficiency is suspected based on symptoms but confirmed through genetic testing that identifies a mutation in both copies of the SLC13A5 gene.
The average person with a rare disease sees 7.3 specialists over a span of 5-7 years before receiving an accurate diagnosis. AmbitCare Ambassadors provide free services including listening to understand your challenges, guiding you on potential next steps, and recommending resources.