• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.1
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• pp.18-23
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• 2017

${\beta}$-ureidopropionase deficiency (${\beta}$-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 ${\beta}$-UPD have been reported to vary from asymptomatic to severe developmental delays. However, the long-term clinical courses of patients with ${\beta}$-UPD have not yet been reported. A Korean girl was diagnosed with ${\beta}$-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 ${\beta}$-UPD.

• Journal of Interdisciplinary Genomics
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• v.5 no.1
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• pp.5-11
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• 2023

β-ureidopropionase (β-UP) is an enzyme that catalyzes the final step in the pyrimidine degradation pathway, which converts β-ureidopropionate and β-ureidoisobutyrate into β-alanine and β-aminoisobutyrate, respectively. β-UP deficiency (UPB1D; OMIM # 613161) is an extremely rare autosomal recessive inborn error disease caused by a mutation in the UPB1 gene on chromosome 22q11. To date, approximately 40 cases of UPB1D have been reported worldwide, including one case in Korea. The clinical manifestations of patients with UPB1D are known to be diverse, with a very wide range of manifestations being previously reported; these manifestations include completely asymptomatic, urogenital and colorectal anomalies, or severe neurological involvement, including global developmental delay, microcephaly, early onset psychomotor retardation with dysmorphic features, epilepsy, optic atrophy, retinitis pigmentosa, severely delayed myelination, and cerebellar hypoplasia. Currently, diagnosis of UPB1D is challenging as neurological manifestations, MRI abnormalities, and biochemical analysis for pyrimidine metabolites in the urine, plasma, and cerebrospinal fluid also need to be confirmed by UPB1 gene mutations. Overall, treatment of patients with UPB1D is palliative as there is still no definitive curative treatment available.