Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome in Vietnamese Patients

: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH; OMIM 238970) is one of the rare urea cycle disorders. Ornithine carrier 1 deficiency causes HHH syndrome, characterized by failure of mitochondrial ornithine uptake, hyperammonemia, and accumulation of ornithine and lysine in the cy...

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Veröffentlicht in:	Medicina (Kaunas, Lithuania) Lithuania), 2024-11, Vol.60 (11), p.1877
Hauptverfasser:	Nguyen, Khanh Ngoc, Tran, Van Khanh, Nguyen, Ngoc Lan, Can, Thi Bich Ngoc, Dang, Thi Kim Giang, Nguyen, Thu Ha, Do, Thi Thanh Mai, Phuong, Le Thi, Tran, Thinh Huy, Ta, Thanh Van, Tu, Nguyen Huu, Vu, Chi Dung
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino acids Child, Preschool Citrulline - analogs & derivatives Citrulline - blood Convulsions & seizures Female Genes Genetic testing Humans Hyperammonemia - diagnosis Hyperammonemia - genetics Infant Infant, Newborn Intellectual disabilities Liver Male Mitochondrial Membrane Transport Proteins - genetics Ornithine - blood Ornithine - deficiency Prospective Studies Proteins Retrospective Studies Sodium Southeast Asian People Urea Cycle Disorders, Inborn - complications Urea Cycle Disorders, Inborn - diagnosis Urea Cycle Disorders, Inborn - genetics Urine Vietnam - epidemiology Vomiting
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