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...

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Autores principales:	Tanya L. Brown, Kimberly L. Nye, Brenda E. Porter
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	<i>SLC13A5</i> citrate NaCT transporter Microbiology QR1-502
Acceso en línea:	https://doaj.org/article/295c0f16012f45c28b1cd63939c1d7cc
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spelling	oai:doaj.org-article:295c0f16012f45c28b1cd63939c1d7cc2021-11-25T18:20:37ZGrowth and Overall Health of Patients with <i>SLC13A5</i> Citrate Transporter Disorder10.3390/metabo111107462218-1989https://doaj.org/article/295c0f16012f45c28b1cd63939c1d7cc2021-10-01T00:00:00Zhttps://www.mdpi.com/2218-1989/11/11/746https://doaj.org/toc/2218-1989We 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.Tanya L. BrownKimberly L. NyeBrenda E. PorterMDPI AGarticle<i>SLC13A5</i>citrateNaCTtransporterMicrobiologyQR1-502ENMetabolites, Vol 11, Iss 746, p 746 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	<i>SLC13A5</i> citrate NaCT transporter Microbiology QR1-502
spellingShingle	<i>SLC13A5</i> citrate NaCT transporter Microbiology QR1-502 Tanya L. Brown Kimberly L. Nye Brenda E. Porter Growth and Overall Health of Patients with <i>SLC13A5</i> Citrate Transporter Disorder
description	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.
format	article
author	Tanya L. Brown Kimberly L. Nye Brenda E. Porter
author_facet	Tanya L. Brown Kimberly L. Nye Brenda E. Porter
author_sort	Tanya L. Brown
title	Growth and Overall Health of Patients with <i>SLC13A5</i> Citrate Transporter Disorder
title_short	Growth and Overall Health of Patients with <i>SLC13A5</i> Citrate Transporter Disorder
title_full	Growth and Overall Health of Patients with <i>SLC13A5</i> Citrate Transporter Disorder
title_fullStr	Growth and Overall Health of Patients with <i>SLC13A5</i> Citrate Transporter Disorder
title_full_unstemmed	Growth and Overall Health of Patients with <i>SLC13A5</i> Citrate Transporter Disorder
title_sort	growth and overall health of patients with <i>slc13a5</i> citrate transporter disorder
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/295c0f16012f45c28b1cd63939c1d7cc
work_keys_str_mv	AT tanyalbrown growthandoverallhealthofpatientswithislc13a5icitratetransporterdisorder AT kimberlylnye growthandoverallhealthofpatientswithislc13a5icitratetransporterdisorder AT brendaeporter growthandoverallhealthofpatientswithislc13a5icitratetransporterdisorder
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Growth and Overall Health of Patients with <i>SLC13A5</i> Citrate Transporter Disorder

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