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

• Main Authors: Hugo Hernán Abarca-Barriga (Author), María Cristina Laso-Salazar (Author), Diego Orihuela-Tacuri (Author), Jenny Chirinos-Saire (Author), Anahí Venero-Nuñez (Author)
• Format: Book
• Published: BMC, 2024-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...