Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome: a treatable genetic liver disease warranting urgent diagnosis

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is an autosomal recessive disorder caused by a defect in ornithine translocase. This condition leads to variable clinical presentations, including episodic hyperammonaemia, hepatic derangement, and chronic neurological manifestations. Few...

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Veröffentlicht in:	Hong Kong medical journal = Xianggang yi xue za zhi 2014-02, Vol.20 (1), p.63-66
Hauptverfasser:	Lee, Hencher H C, Poon, K H, Lai, C K, Au, K M, Siu, T S, Lai, Judy P S, Mak, Chloe M, Yuen, Y P, Lam, C W, Chan, Albert Y W
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Transport Systems, Basic - genetics Amino Acids - blood Ataxia Child Child, Preschool Enzymes Heterozygote Humans Hyperammonemia - diagnosis Hyperammonemia - genetics Hyperammonemia - therapy Infant Infant, Newborn Light therapy Liver Male Metabolism Microscopy Minority & ethnic groups Mutation Neonatal Screening Ornithine - deficiency Ornithine - genetics Patients Prenatal Diagnosis Proteins Urea Cycle Disorders, Inborn - diagnosis Urea Cycle Disorders, Inborn - genetics Urea Cycle Disorders, Inborn - therapy
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