Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2025 Jul;67(7):930-940.
doi: 10.1111/dmcn.16218. Epub 2024 Dec 22.

Developmental phenotype and quality of life in SLC13A5 citrate transporter disorder

Can Ozlu  1 , Raegan M Adams  2 , Rayann M Solidum  3 , Sydney Cooper  1 , Carrie R Best  4   5 , Jennifer Elacio  4 , Brian C Kavanaugh  5 , Emily M Spelbrink  3 , Tanya L Brown  6 , Kimberly Nye  6 , Judy S Liu  7 , Rachel M Bailey  1   2 , Kimberly Goodspeed  1 , Brenda E Porter  3
Affiliations

Developmental phenotype and quality of life in SLC13A5 citrate transporter disorder

Can Ozlu et al. Dev Med Child Neurol. 2025 Jul.

Abstract

Aim: To describe the neurodevelopment and quality of life in SLC13A5 (solute carrier family 13 member 5) citrate transporter disorder (developmental and epileptic encephalopathy 25, DEE25), a rare genetic early infantile epileptic encephalopathy caused by deficiency of a sodium-citrate transporter, characterized by heavy seizure burden in the neonatal period.

Method: We analyzed longitudinal neurodevelopmental outcomes from a prospective natural history study of DEE25, using standardized assessments of Mullen Scales of Early Learning, Peabody Developmental Motor Scales, and Vineland Adaptive Behavior Scales.

Results: There was significant global impairment across the cohort, with variable quality of life and limited genotype-phenotype correlation. Patient-specific scores were stable across visits with evidence of modest gains in early childhood and static skills in adolescence and adulthood.

Interpretation: There is a poor prognosis in terms of multiple measures of age-appropriate development.

PubMed Disclaimer

References

REFERENCES

    1. Inoue K, Zhuang L, Maddox DM, Smith SB, Ganapathy V. Structure, function, and expression pattern of a novel sodium‐coupled citrate transporter (NaCT) cloned from mammalian brain. J Biol Chem. 2002 Oct 18;277(42):39469–76.
    1. Inoue K, Zhuang L, Ganapathy V. Human Na+ −coupled citrate transporter: primary structure, genomic organization, and transport function. Biochem Biophys Res Commun. 2002 Dec 6;299(3):465–71.
    1. Li Z, Wang H. Molecular Mechanisms of the SLC13A5 Gene Transcription. Metabolites. 2021 Oct 15;11(10):706.
    1. Thevenon J, Milh M, Feillet F, St‐Onge J, Duffourd Y, Jugé C, et al. Mutations in SLC13A5 cause autosomal‐recessive epileptic encephalopathy with seizure onset in the first days of life. Am J Hum Genet. 2014 Jul 3;95(1):113–20.
    1. Costello L, Franklin R, Reynolds M. The Important Role and Implications of Citrate in the Composition, Structure, and Function of Oral/Periodontal/Craniofacial Tissues. Madridge J Dent Oral Surg. 2018;3(1):85–90.

Grants and funding

LinkOut - more resources