Case report: Novel DGUOK variants associated with idiopathic non-cirrhotic portal hypertension in a Han Chinese child

• Hauptverfasser: Jia-Qi Li (Verfasst von), Jia-Yan Feng (Verfasst von), Ying Gong (Verfasst von), Wang-Qiang Li (Verfasst von), Teng Liu (Verfasst von)
• Format: Buch
• Veröffentlicht: Frontiers Media S.A., 2023-09-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: Connect to this object online.

DGUOK deficiency has primarily been associated with lethal hepatic failure with or without hypotonia, nystagmus, and psychomotor retardation, features typical of mitochondrial disease. A study in 3 Turkish children identified homozygosity for a variant in DGUOK as associated with idiopathic non-cirr...