Related Experiment Video

Updated: Jun 4, 2025

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
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Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

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Developmental phenotype and quality of life in SLC13A5 citrate transporter disorder

Can Ozlu1, Raegan M Adams2, Rayann M Solidum3

  • 1Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA.

Developmental Medicine and Child Neurology
|December 22, 2024
PubMed

Insights

Children with solute carrier family 13 member 5 citrate transporter disorder (SLC13A5) experience significant neurodevelopmental impairment and a poor prognosis, with variable quality of life. Gains are modest in early childhood, followed by static skills later on.

Area of Science:

  • Genetics
  • Neuroscience
  • Rare Diseases

Background:

  • SLC13A5 (solute carrier family 13 member 5) citrate transporter disorder, also known as developmental and epileptic encephalopathy 25 (DEE25), is a rare genetic condition.
  • It is characterized by severe epilepsy and neurological impairment starting in early infancy.
  • The disorder stems from a deficiency in the sodium-citrate transporter.

Purpose of the Study:

  • To characterize the neurodevelopmental trajectory and quality of life in individuals with SLC13A5 disorder.
  • To explore potential genotype-phenotype correlations in this rare condition.

Main Methods:

  • A prospective natural history study was conducted.
  • Longitudinal neurodevelopmental outcomes were assessed using standardized tools: Mullen Scales of Early Learning, Peabody Developmental Motor Scales, and Vineland Adaptive Behavior Scales.

Main Results:

  • The study cohort exhibited significant global neurodevelopmental impairment.
  • Quality of life varied among patients, with limited correlation between specific genetic mutations and observed phenotypes.
  • Patient scores remained stable across assessments, showing modest improvements in early childhood and plateauing in adolescence and adulthood.

Conclusions:

  • Individuals with SLC13A5 disorder face a generally poor prognosis regarding age-appropriate development.
  • The findings highlight the severe and persistent impact of this disorder on neurodevelopment and adaptive functioning.
Abstract

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