Clinical Spectrum, Diagnosis, and Management of TANGO2 Deficiency Disorder: A Comprehensive Review

• Main Authors: Marcin Dołęga (Author), Piotr Gacka (Author), Olgierd Dróżdż (Author), Joanna Gołda (Author), Julia Mężyk (Author), Aleksandra Snopkowska (Author)
• Format: Book
• Published: Nicolaus Copernicus University in Toruń, 2024-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

TANGO2 deficiency disorder is an autosomal recessive disease caused by biallelic pathogenic variants in the TANGO2 gene. First described in 2016, the disorder is characterized by acute metabolic crises, neurological dysfunctions, developmental delays, and intellectual disabilities. Laboratory findin...