Article
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.
Molecular genetics and metabolism - 1 Jan 2000
Righetti Sarah, Allcock Richard J N, Yaplito-Lee Joy, Adams Louisa, Ellaway Carolyn, Jones Kristi J, Selvanathan Arthavan, Fletcher Janice, Pitt James, van Kuilenburg André B P, Delatycki Martin B, Laing Nigel G, Kirk Edwin P
Abstract excerpt
BACKGROUND: Beta-ureidopropionase deficiency, caused by variants in UPB1, has been reported in association with various neurodevelopmental phenotypes including intellectual disability, seizures and autism. AIM: We aimed to reassess the relationship between variants in UPB1 and a clinical phenotype. METHODS: Literature review, calculation of carrier frequencies from population databases, long-term follow-up of a...
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