Abstract
We were interested in elucidating the non-neurologic health of patients with autosomal recessive SLC13A5 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.
Highlights
Over 40 different variants, have been reported in the SLC13A5 gene
40 variants are associated with an autosomal recessive disorder causing a distinct neurologic phenotype; multiple seizure semiologies are reported, with epilepsy starting during the neonatal period, along with significant abnormalities in motor and cognitive function
Our findings demonstrated normal growth for SLC13A5 Citrate Transporter Disorder patients in the first three years of life and that patients had mild health complications outside the nervous system
Summary
Over 40 different variants (https://www.tessresearch.org/research-tools/#pathogenicmutations, accessed on 27 October 2021), have been reported in the SLC13A5 gene. All. 40 variants are associated with an autosomal recessive disorder causing a distinct neurologic phenotype; multiple seizure semiologies are reported, with epilepsy starting during the neonatal period, along with significant abnormalities in motor and cognitive function. The loss of citrate transport, presumably throughout the body, has only been associated with neurologic and dental abnormalities in humans [5,6,7,8,9]. Citrate levels were elevated in the CSF and plasma of the few patients tested [10]. It is unclear whether the elevated extracellular citrate levels contribute to the neurologic phenotype or cause other non-neurologic sequelae
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