Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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Neurological Outcome of Patients with Late-onset Ornithine Transcarbamylase Deficiency

지발형 오르니틴 트랜스카바미라제 결핍증 환자들의 신경학적 예후

  • Jang, Kyung Mi (Department of Pediatrics, Yeungnam University School of Medicine, Yeungnam University Hospital) ;
  • Hwang, Su-Kyeong (Department of Pediatrics, School of Medicine, Kyungpook National University)
  • 장경미 (영남대학교병원 소아청소년과) ;
  • 황수경 (경북대학교 어린이병원 소아청소년과)
  • Published : 2022.06.30
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Abstract

The most common urea cycle disorder is ornithine transcarbamylase deficiency. More than 80 percent of patients with symptomatic ornithine transcarbamylase deficiency are late-onset, which can present various phenotypes from infancy to adulthood. With no regards to the severity of the disease, characteristic fluctuating courses due to hyperammonemia may develop unexpectedly, and can be precipitated by various metabolic stressors. Late-onset ornithine transcarbamylase deficiency is not merely related to a type of genetic variation, but also to the complex relationship between genetic and environmental factors that result in hyperammonemia; therefore, it is difficult to predict the prevalence of neurological symptoms in late-onset ornithine transcarbamylase deficiency. Most common acute neurological manifestations include psychological changes, seizures, cerebral edema, and death; subacute neurological manifestations include developmental delays, learning disabilities, intellectual disabilities, attention-deficit/hyperactivity disorder, executive function deficits, and emotional and behavioral problems. This review aims to increase awareness of late-onset ornithine transcarbamylase deficiency, allowing for an efficient use of biochemical and genetic tests available for diagnosis, ultimately leading to earlier treatment of patients.

Keywords

References

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