Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome

Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome

Abstract Background Fanconi-Bickel syndrome is characterized by hepatorenal disease caused by anomalous glycogen storage. It occurs due to variants in the SLC2A2 gene. We present a male patient of 2 years 7 months old, with failure to thrive, hepatomegaly, metabolic acidosis, hypophosphatemia, hypok...

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Bibliographic Details
Main Authors: Hugo Hernán Abarca-Barriga, María Cristina Laso-Salazar, Diego Orihuela-Tacuri, Jenny Chirinos-Saire, Anahí Venero-Nuñez
Format: Article
Language:English
Published: BMC 2024-03-01
Series:BMC Pediatrics
Subjects:
SLC2A2
Hypophosphatemia
Glycogen storage disease
Renal tubular acidosis
Exome sequencing
Online Access:https://doi.org/10.1186/s12887-024-04641-1

Internet

https://doi.org/10.1186/s12887-024-04641-1

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