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.
Have additional questions? Contact an AmbitCare Ambassador by phone at 1-877-584-8995 or by email at email@example.com today.
Our hours of operation are Monday-Friday, 9-5pm ET. An AmbitCare Ambassador will typically respond within 1-2 business days.