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KMID : 0918520170170010018
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Journal of the Korean Society of Inherited Metabolic Disease
2017 Volume.17 No. 1 p.18 ~ p.23
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Long-term Clinical Course of a Korean Girl with β-ureidopropionase Deficiency
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Song Woo-Sun
Park Young-Jin
Lee Jun-Hwa
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Abstract
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β-ureidopropionase deficiency (β-UPD; OMIM # 613161) is a rare autosomal recessive inborn error of pyrimidine metabolism caused by mutations in the UPB1 gene and approximately 30 cases have been reported in the world. The clinical features of patients with β-UPD have been reported to vary from asymptomatic to severe developmental delays. However, the long-term clinical courses of patients with β-UPD have not yet been reported. A Korean girl was diagnosed with β-UPD at the age of 8 years and 10 months by targeted next-generation sequencing which was subsequently confirmed by Sanger sequencing. She had many clinical features such as poor oral feeding, failure to thrive, global developmental delay, microcephaly, frequent infection, and intractable epilepsy. She died suddenly of an unknown
cause at the age of 11 years and 5 months. Here we report the long-term (i.e. lifelong) clinical aspects of a Korean patient with β-UPD.
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KEYWORD
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Clinical course, β-Ureidopropionase deficiency, Pyrimidine, Targeted next-generation sequencing
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