SLC13A5 Citrate Transporter Disorder

This code identifies a rare, inherited metabolic disorder caused by a genetic mutation in the SLC13A5 gene, which impairs the transport of citrate. This deficiency leads to a spectrum of neurological symptoms, primarily early-onset epileptic encephalopathy, developmental delay, and intellectual disability. Affected individuals often present with intractable seizures beginning in infancy.

Use this code for patients diagnosed with SLC13A5 Citrate Transporter Disorder, confirmed by genetic testing identifying pathogenic variants in the SLC13A5 gene. It is appropriate for documenting the underlying genetic cause of a patient's neurological symptoms, particularly intractable epilepsy and developmental delays. Documentation should clearly state the genetic diagnosis.

• Always confirm genetic testing results indicating SLC13A5 gene mutation.
• Sequence this code as a primary diagnosis when it is the definitive cause of the patient's condition.
• Code all associated neurological manifestations (e.g., specific types of epilepsy, developmental delays) as secondary diagnoses.