Growth and Overall Health of Patients with <i>SLC13A5</i> Citrate Transporter Disorder

We were interested in elucidating the non-neurologic health of patients with autosomal recessive <i>SLC13A5</i> Citrate Transporter (NaCT) Disorder. Multiple variants have been reported that cause a loss of transporter activity, resulting in significant neurologic impairment, including s...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Tanya L. Brown, Kimberly L. Nye, Brenda E. Porter
Format: article
Langue:EN
Publié: MDPI AG 2021
Sujets:
Accès en ligne:https://doaj.org/article/295c0f16012f45c28b1cd63939c1d7cc
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
Description
Résumé:We were interested in elucidating the non-neurologic health of patients with autosomal recessive <i>SLC13A5</i> Citrate Transporter (NaCT) Disorder. Multiple variants have been reported that cause a loss of transporter activity, resulting in significant neurologic impairment, including seizures, as well as motor and cognitive dysfunction. Additionally, most patients lack tooth enamel (amelogenesis imperfecta). However, patients have not had their overall health and growth described in detail. Here we characterized the non-neurologic health of 15 patients with medical records uploaded to Ciitizen, a cloud-based patient medical records portal. Ciitizen used a query method for data extraction. Overall, the patients’ records suggested a moderate number of gastrointestinal issues related to feeding, reflux, vomiting and weight gain and a diverse number of respiratory complaints. Other organ systems had single or no abnormal diagnoses, including liver, renal and cardiac. Growth parameters were mostly in the normal range during early life, with a trend toward slower growth in the few adolescent patients with data available. The gastrointestinal and pulmonary issues may at least partially be explained by the severity of the neurologic disorder. More data are needed to clarify if growth is impacted during adolescence and if adult patients develop or are protected from non-neurologic disorders.