β-Ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems

Molecular Genetics and Metabolism

Volumn 93, Issue 2, 2008, Pages 190-194

  Yaplito Lee, J ^a   Pitt, J ^a   Meijer, J ^b   Zoetekouw, L ^b   Meinsma, R ^b   van Kuilenburg, A B P ^b  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Ureidopropionase; Congenital anomalies; Mutation; Pyrimidine

Indexed keywords

BETA AMINO ACID; BETA UREIDOPROPIONASE; ENZYME; N CARBAMYL BETA AMINO ACID; RECEPTOR; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BETA UREIDOPROPIONASE DEFICIENCY; CASE REPORT; CLINICAL ASSESSMENT; CLINICAL FEATURE; COLORECTAL DISEASE; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; ENZYME DEFICIENCY; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; INFANT; MALE; NEPHROLITHIASIS; NEUROLOGIC DISEASE; NEWBORN SCREENING; PRIORITY JOURNAL; PROTEIN EXPRESSION; ULTRASOUND; UPB1 GENE; URINALYSIS; UROGENITAL TRACT MALFORMATION;

ABNORMALITIES, MULTIPLE; AMIDOHYDROLASES; AMINOISOBUTYRIC ACIDS; BETA-ALANINE; COLON; HUMANS; INFANT; MALE; POINT MUTATION; RECTUM; UROGENITAL ABNORMALITIES;

EID: 38049070940     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.09.009     Document Type: Article

References (17)

1. Assmann B., Gohlich-Ratmann G., Brautigam C., Wagner L., Moolenaar S., Engelke U., Wevers R., Voit T., and Hoffmann G.F. Presumptive ureidopropionase deficiency as a new defect in pyrimidine catabolism found in vitro H-NMR spectroscopy. J. Inherit. Metab. Dis. 21 (1998) 1
2. van Kuilenburg A.B.P., van Lenthe H., Assmann B., Gohlich-Ratmann G., Hoffman G.F., Brautigam C., Wevers R.A., and van Gennip A.H. Detection of β-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level. J. Inherit. Metab. Dis. 24 (2001) 725-732
3. Ohse M., Matsuo M., Ishida A., and Kuhara T. Screening and diagnosis of beta-ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urine. J. Mass Spectrom. 37 (2002) 954-962
4. van Kuilenburg A.B.P., Meinsma R., Beke E., Assmann B., Ribes A., Lorent I., Busch R., Mayatepek E., Abeling N.G.G.M., van Cruchten A., Stroomer A.E.M., van Lenthre H., Zoetekouw L., Kulik W., Hoffman G., Voit T., Wevers R., Rutsch F., and van Gennip A.H. β-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Hum. Mol. Genet. 13 (2004) 2793-2801
5. Pitt J.J., Eggington M., and Kahler S.G. Comprehensive screening of urine samples for inborn errors of metabolism by electrospray tandem mass spectrometry. Clin. Chem. 48 (2002) 1970-1980
6. van Lenthe H., van Kuilenburg A.B.P., Ito T., Bootsma A.H., van Cruchten A., Wada Y., and van Gennip A.H. Defects in pyrimidine degradation identified by HPLC-electrospray tandem mass spectrometry of urine specimens or urine-soaked filter paper strips. Clin. Chem. 46 (2000) 1916-1922
7. van Kuilenburg A.B.P., van Lenthe H., van Cruchten A.G., and Kulik W. Quantification of 5,6-dihyrouracil by HPLC-electrospray tandem mass spectrometry. Clin. Chem. 50 (2004) 236-238
8. Vreken P., van Kuilenburg A.B.P., Hamajima N., Meinsma J.R., van Lenthe H., Gohlich-Ratmann G., Assmann B.E., Wevers R.A., and van Gennip A.H. cDNA cloning, genomic structure and chromosomal localization of the human BUP-gene encoding beta ureidopropionase. Biochim. Biophys. Acta 1447 (1999) 251-257
9. 14C]5,6-dihyrouracil. Anal. Biochem. 272 (1999) 250-253
10. Pena A., and Levitt M.A. Imperforate anus and malformations. In: Ashcraft K.W., Holcomb III G.W., and Murphy J.P. (Eds). Pediatric Surgery (2005), Elsevier, Saunders, USA 496-500
11. Schalamon J., Schleef J., and Hollworth M.E. Experience with gastrointestinal duplications in childhood. Langenbeck's Arch. Surg. 385 (2000) 402-405
12. Frimbarger D., and Gearhart J.P. Bladder and cloacal exstrophy. In: Ashcraft K.W., Holcomb III G.W., and Murphy J.P. (Eds). Pediatric Surgery (2005), Elsevier, Saunders, USA 793
13. Kölker S., Okun J.G., Hörster F., Assmann B., Ahlemeyer B., Kohlmuller D., Exner-Camps S., Mayatepek E., Krieglstein J., and Hoffmann G.F. 3-ureidopropionate contributes to the neuropathology of 3-ureidopropionase deficiency and severe propionic aciduria: a hypothesis. J. Neurosci. Res. 66 (2001) 666-673
14. Schmieden V., Kuhse J., and Betz H. A novel domain of the inhibitory glycine receptor determining antagonist efficacies: further evidence for partial agonism resulting from self-inhibition. Mol. Pharmacol. 56 (1999) 464-472
15. Assmann B., Gohlich G., Baethmann M., Wevers R.A., van Gennip A.H., Kuilenburg A.B.P., Dietrich C., Wagner L., Rotteveel J.J., Schaper J., Mayatepek E., Hoffmann G.F., and Voit T. Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency. Neuropediatrics 37 (2006) 20-25
16. Gennip A.H., van Lenthe H., Abeling N.G.G.M., Scholten E.G., and van Kuilenburg A.B.P. Inhibition of β-ureidopropionase by propionate may contribute to neurological complications in patients with propionic acidemia. J. Inherit. Metab. Dis. 20 (1997) 379-382
17. van Gennip A.H., Busch S., Elzinga L., M Stroomer A.E., van Cruchten A., Scholten E.G., and Abeling N.G.G.M. Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation. Clin. Chem. 39 (1993) 380-385