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KMID : 0918520220220010015
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Journal of the Korean Society of Inherited Metabolic Disease
2022 Volume.22 No. 1 p.15 ~ p.20
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Neurological Outcome of Patients with Late-onset Ornithine Transcarbamylase Deficiency
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Jang Kyung-Mi
Hwang Su-Kyeong
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Abstract
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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 manife- stations 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.
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KEYWORD
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Hyperammonemia, Late-onset disorders, Ornithine transcarbamylase deficiency, Encephalo- pathy, Neurological manifestation
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