SLC13A5 Deficiency

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SLC13A5 Deficiency

SLC13A5 deficiency is a rare genetic epilepsy characterized by seizures that start during the first few days of life and developmental delays.

Key characteristics and symptoms of SLC13A5 related disorders

KEY CHARACTERISTICS

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.

OTHER COMMON SYMPTOMS

Movement problems
Speech impairment
Poor development of teeth

SLC13A5 deficiency is suspected based on symptoms but confirmed through genetic testing that identifies a mutation in both copies of the SLC13A5 gene.

Currently there is no cure for SLC13A5 deficiency. Patients are treated for their symptoms, not for the underlying cause of the disease. Prescription medications and a variety of therapies help to alleviate symptoms. There are currently companies investigating treatments for SLC13A5 deficiency

AmbitCare can help you understand how rare disease might be part of your story.

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.

Join our community

Have additional questions? Contact an AmbitCare Ambassador by phone at 1-877-584-8995 or by email at info@ambitinc.com today.

Our hours of operation are Monday-Friday, 9-5pm ET. An AmbitCare Ambassador will typically respond within 1-2 business days.

* Please note that while AmbitCare Ambassadors can help you better understand what resources are available for families with loved ones suffering from seizures and developmental delays, they are not licensed medical providers and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments.

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