| Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems. | |
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MedLine Citation:
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PMID: 17964839 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Beta-ureidopropionase deficiency (McKusick 606673) is an autosomal recessive condition caused by mutations in the UPB1 gene. To date, five patients have been reported, including one putative case detected through newborn screening. Clinical presentation includes neurological and developmental problems. Here, we report another case of beta-ureidopropionase deficiency who presented with congenital anomalies of the urogenital and colorectal systems and with normal neurodevelopmental milestones. Analysis of a urine sample, because of the suspicion of renal stones on ultrasound, showed strongly elevated levels of the characteristic metabolites, N-carbamyl-beta-amino acids. Subsequent analysis of UPB1 identified a novel mutation 209 G>C (R70P) in exon 2 and a previously reported splice receptor mutation IVS1-2A>G. Expression studies of the R70P mutant enzyme showed that the mutant enzyme did not possess any residual activity. Long-term follow-up is required to determine the clinical significance of the beta-ureidopropionase deficiency in our patient. |
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Authors:
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J Yaplito-Lee; J Pitt; J Meijer; L Zoetekouw; R Meinsma; A B P van Kuilenburg |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2007-10-26 |
Journal Detail:
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Title: Molecular genetics and metabolism Volume: 93 ISSN: 1096-7206 ISO Abbreviation: Mol. Genet. Metab. Publication Date: 2008 Feb |
Date Detail:
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Created Date: 2008-01-18 Completed Date: 2008-04-03 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9805456 Medline TA: Mol Genet Metab Country: United States |
Other Details:
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Languages: eng Pagination: 190-4 Citation Subset: IM |
Affiliation:
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Metabolic Service, Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Vic. 3052, Australia. joy.yaplito-lee@ghsv.org.au |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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enzymology*,
genetics*,
urine Amidohydrolases / deficiency*, genetics* Aminoisobutyric Acids / urine Colon / abnormalities* Humans Infant Male Point Mutation* Rectum / abnormalities* Urogenital Abnormalities / enzymology*, genetics*, urine beta-Alanine / analogs & derivatives, urine |
| Chemical | |
Reg. No./Substance:
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0/Aminoisobutyric Acids; 107-95-9/beta-Alanine; 462-88-4/N-carbamoyl-beta-alanine; EC 3.5.-/Amidohydrolases; EC 3.5.1.6/beta-ureidopropionase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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