Growth and Overall Health of Patients with SLC13A5 Citrate Transporter Disorder
Abstract
:1. Introduction
2. Results
2.1. SLC13A5 Citrate Transporter Disorder Patient Demographics
2.2. Growth Parameters
2.2.1. SLC13A5 Citrate Transporter Disorder Patient Physical Development 0–36 Months
2.2.2. SLC13A5 Citrate Transporter Disorder Patient Physical Development 2–20 Years
2.3. Non-Neurologic Diagnoses
2.4. Diagnostic Procedures
2.5. Surgical Procedures
3. Discussion
4. Materials and Methods
4.1. Medical Record Collection and Data Extraction
4.2. Medical Record Analysis: Patient Growth
4.3. Medical Record Analysis: Patient Diagnoses
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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ID | DNA Variant | Protein Variant | Variant Classification | Clinical Significance (ClinVar) | Age at Diagnosis (Years) | Birth Year | Medical Records Collection |
---|---|---|---|---|---|---|---|
Female 1 | c.1599C > A | p.Asn533Lys | missense | VUS | <1 | 2020 | 2020–2021 |
c.650G > A | p.Ser217Asn | missense | VUS | ||||
Female 2 a | c.655G > A | p.Gly219Arg | missense | P/LP | 4 | 2010 | 2010–2020 |
c.245A > G | p.Tyr82Cys | missense | N | ||||
Female 3 b | c.511delG | p.Glu171Serfs*16 | frameshift | P | 7 | 2006 | 2006–2015 |
c.511delG | p.Glu171Serfs*16 | frameshift | P | ||||
Female 4 c | c.368 + 1G > A | splice site | N | 2013 | 2013–2020 | ||
c.368 + 1G > A | splice site | N | |||||
Female 5 c | c.368 + 1G > A | splice site | N | 5 | 2008 | 2008–2020 | |
c.368 + 1G > A | splice site | N | |||||
Female 6 d | c.1475T > C | p.Leu492Pro | missense | LP | 10 | 2003 | 2007–2020 |
c.655G > A | p.Gly219Arg | missense | P/LP | ||||
Female 7 | Gene Deletion | gene deletion | N | <1 | 2018 | 2018–2021 | |
c.425C > T | p.Thr142Met | missense | LP | ||||
Female 8 | chr17:6606,915-6611,132 × 1 | partial gene deletion | N | <1 | 2016 | 2016–2020 | |
c.389G > A | p.Gly130Asp | missense | N | ||||
Male 1 | c.997C > T | p.Arg333Ter | missense | P | 6 | 2013 | 2013–2020 |
c.997C > T | p.Arg333Ter | missense | P | ||||
Male 2 | c.232-2A > G | splice site | LP | <1 | 2019 | 2019–2020 | |
c.1460C > T | p.Pro487Leu | missense | VUS | ||||
Male 3 | c.1511delT | p.Leu504Cysfs*23 | frameshift | N | 4 | 2012 | 2012–2020 |
c.1511delT | p.Leu504Cysfs*23 | frameshift | N | ||||
Male 4 b | c.511delG | p.Glu171Serfs*16 | frameshift | P | 6 | 2007 | 2007–2016 |
c.511delG | p.Glu171Serfs*16 | frameshift | P | ||||
Male 5 d | c.655G > A | p.Gly219Arg | missense | P/LP | <1 | 2013 | 2013–2020 |
c.1475T > C | p.Leu492Pro | missense | LP | ||||
Male 6 | c.1514C > T | p.Pro505Leu | missense | VUS | <1 | 2019 | 2019–2020 |
c.997C > T | p.Arg333Ter | missense | P | ||||
Male 7 a | c.655G > A | p.Gly219Arg | missense | P/LP | 7 | 2007 | 2012–2021 |
c.245A > G | p.Tyr82Cys | missense | N |
Gastrointestinal | Subjects |
---|---|
Feeding difficulty | F8; M1,3,6 |
Gastroesophageal reflux disease (GERD) | F1,5,8; M1,7 |
Abdominal pain | F2 |
Vomiting | M3,5,6 |
Projectile Vomiting | M2 |
Oropharyngeal dysphagia | F2; M1 |
Incontinence of feces | M3 |
Urinary | |
Urinary incontinence | M3 |
Vesicoureteral reflux | F2 |
Recurrent urinary tract infections | F8; M4,6 |
Retention of urine | F8; |
Musculoskelatal | |
Talipes planovalgus | F3; M4 |
Trigonocephaly/Simple craniosynostosis | M1 |
Fracture of radius | F5 |
Calcaneovalgus deformity of foot | F3 |
Joint hypermobility | F3; M4 |
Varus deformity | F3 |
Simple craniosynostosis | M1 |
Nutrition and growth | |
Slow weight gain | F2; M7 |
Short stature | F2,6; M7 |
Failure to thrive | F3 |
Respiratory | |
Ineffective airway clearance | M3 |
Breathing-related sleep disorder | M1 |
Pulmonary aspiration | M1 |
Reactive airway disease | F2; M3 |
Respiratory distress | F2 |
Respiratory failure | M1 |
Respiratory insufficiency | F5 |
Restrictive lung disease | M1 |
Ineffective airway clearance | M3 |
Apnea | F3,5; M3,6 |
Acute bronchitis | M1 |
Acute respiratory failure | M6 |
Snoring | F8; M1,3 |
Chronic cough | M1 |
Atelectasis | M6 |
Vocal cord paralysis | F2 |
Chronic pulmonary aspiration | M3 |
Cardiovascular | |
Patent ductus arteriosus | F3 |
Patent foramen ovale | F3 |
Mitral valve regurgitation | F2 |
Heart murmur | M1 |
Hematologic | |
Anemia | F3 |
Integument | |
Eczema | F8 |
Dental Health | |
Impaired dentition | F3 |
Partial congenital absence of teeth | F2 |
Congenital anomaly in number of teeth | F5; M6 |
Cardiac | Subjects |
---|---|
Echocardiography (Normal) | F3; M1,4 |
Echocardiography (Patent Foramen Ovale) | F3,5; M2 |
Electrocardiographic monitoring (Normal) | M1,4 |
Bone health | |
Radiography for bone age studies (Normal) | F3; M4 |
Gastrointestinal | |
Videofluoroscopic swallow study (Oropharyngeal dysphagia) | M1 |
Videofluoroscopic swallow study (Pulmonary aspiration) | M1 |
Videofluoroscopic swallow study (Laryngeal penetration) | M5 |
Ultrasonography of abdomen (Normal) | F3; M2,4 |
Upper gastrointestinal tract series (Normal) | M3 |
Upper gastrointestinal tract series (GERD) | F5 |
Diagnostic radiography of abdomen (Normal) | M2 |
Renal | |
Ultrasonography of bilateral kidneys (Normal) | F8,F8,F8 |
Ultrasonography of bilateral kidneys (Bladder distention) | F8 |
Ultrasonography of bilateral kidneys (pyelectasia) | M6 |
Video urodynamic study (Normal) | F8 |
Voiding urethrocystography (Normal) | F3; M4 |
Sleep | |
Polysomnogram (Obstructive sleep apnea of child) | F3; M1 |
Polysomnogram (Normal) | M1 |
Polysomnogram (abnormal) | F8 |
Procedure | Subjects |
---|---|
Gastrostomy tube placement | F2; M3,6 |
Myringotomy tube insertion | M3 |
Tonsil and adenoidectomy/adenoidectomy | F7; M3 |
Release of trigger thumb | F5 |
Incision of lingual frenum | M6 |
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Brown, T.L.; Nye, K.L.; Porter, B.E. Growth and Overall Health of Patients with SLC13A5 Citrate Transporter Disorder. Metabolites 2021, 11, 746. https://doi.org/10.3390/metabo11110746
Brown TL, Nye KL, Porter BE. Growth and Overall Health of Patients with SLC13A5 Citrate Transporter Disorder. Metabolites. 2021; 11(11):746. https://doi.org/10.3390/metabo11110746
Chicago/Turabian StyleBrown, Tanya L., Kimberly L. Nye, and Brenda E. Porter. 2021. "Growth and Overall Health of Patients with SLC13A5 Citrate Transporter Disorder" Metabolites 11, no. 11: 746. https://doi.org/10.3390/metabo11110746