Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems.
Mol Genet Metab
; 93(2): 190-4, 2008 Feb.
Article
em En
| MEDLINE
| ID: mdl-17964839
ABSTRACT
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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Base de dados:
MEDLINE
Assunto principal:
Reto
/
Anormalidades Urogenitais
/
Anormalidades Múltiplas
/
Mutação Puntual
/
Colo
/
Amidoidrolases
Tipo de estudo:
Prognostic_studies
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article