Growth and Overall Health of Patients with SLC13A5 Citrate Transporter Disorder

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...

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Bibliographic Details
Published in:Metabolites 2021-10, Vol.11 (11), p.746
Main Authors: Brown, Tanya L., Nye, Kimberly L., Porter, Brenda E.
Format: Article
Language:English
Subjects:
Age
Amelogenesis imperfecta
citrate
Citric acid
Cognitive ability
Convulsions & seizures
Dental enamel
Diagnostic tests
Females
Gastroesophageal reflux
Genotype & phenotype
Medical records
Metabolic syndrome
Metabolites
NaCT
Nervous system
Ostomy
Patients
Proteins
Seizures
SLC13A5
transporter
Vomiting
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Summary: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.
ISSN:2218-1989
2218-1989
DOI:10.3390/metabo11110746