Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

Journal of Inherited Metabolic Disease

Volumn 37, Issue 5, 2014, Pages 801-812

  Nakajima, Yoko ^a,b   Meijer, Judith ^a   Dobritzsch, Doreen ^c   Ito, Tetsuya ^b   Meinsma, Rutger ^a   Abeling, Nico G G M ^a   Roelofsen, Jeroen ^a   Zoetekouw, Lida ^a   Watanabe, Yoriko ^d   Tashiro, Kyoko ^d   Lee, Tomoko ^e   Takeshima, Yasuhiro ^e   Mitsubuchi, Hiroshi ^f   Yoneyama, Akira ^g   Ohta, Kazuhide ^h   Eto, Kaoru ⁱ   Saito, Kayoko ⁱ   Kuhara, Tomiko ^j   van Kuilenburg, André B P ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

^c UPPSALA UNIVERSITY   (Sweden)

^d KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^f KUMAMOTO UNIVERSITY HOSPITAL   (Japan)

^g National Rehabilitation Center for the Disabled   (Japan)

^h NATIONAL HOSPITAL ORGANIZATION KANAZAWA MEDICAL CENTER   (Japan)

ⁱ TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^j Japan Clinical Metabolomics Institute   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMIDASE; BETA-UREIDOPROPIONASE;

ALLELE; BRAIN DISEASE; CHEMISTRY; CHILD; DEFICIENCY; DISORDERS OF PURINE AND PYRIMIDINE METABOLISM; FEMALE; GENE FREQUENCY; GENETICS; HEK293 CELL LINE; HUMAN; INFANT; JAPAN; MALE; MISSENSE MUTATION; MOLECULAR MODEL; MOTOR DYSFUNCTION; MULTIPLE MALFORMATION SYNDROME; MUTATION; NEUROLOGIC DISEASE; NEWBORN; PHENOTYPE; PRESCHOOL CHILD; PREVALENCE;

ABNORMALITIES, MULTIPLE; ALLELES; AMIDOHYDROLASES; BRAIN DISEASES; CHILD; CHILD, PRESCHOOL; FEMALE; GENE FREQUENCY; HEK293 CELLS; HUMANS; INFANT; INFANT, NEWBORN; JAPAN; MALE; MODELS, MOLECULAR; MOVEMENT DISORDERS; MUTATION; MUTATION, MISSENSE; NERVOUS SYSTEM DISEASES; PHENOTYPE; PREVALENCE; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS;

EID: 84893708973     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-014-9682-y     Document Type: Article

References (34)

1. Assmann B, Gohlich-Ratmann G, Wagner L, Moolenaar S, Engelke U, Wevers R, Voit T, Hoffmann GF (1998) Presumptive ureidopropionase deficiency as a new defect in pyrimidine catabolism found with in vitro H-NMR spectroscopy. J Inherit Metab Dis 21:Suppl 2
2. Assmann B, Gohlich G, Baethmann M et al (2006) Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency. Neuropediatrics 37(1):20–25
3. Begriche K, Massart J, Fromenty B (2010) Effects of beta-aminoisobutyric acid on leptin production and lipid homeostasis: mechanisms and possible relevance for the prevention of obesity. Fundam Clin Pharmacol 24(3):269–282
4. DeLano WL. 2002. The PyMOL Molecular Graphics System, DeLano Scientific, Palo Alto, CA, USA.http://www.pymol.org
5. Dipple KM, McCabe ER (2000) Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am J Hum Genet 66(6):1729–1735
6. Emsley P, Lohkamp B, Scott WG, Cowtan K (2010) Features and development of Coot. Acta Crystallogr D Biol Crystallogr 66(Pt 4):486–501
7. Fidlerova J, Kleiblova P, Kormunda S, Novotny J, Kleibl Z (2012) Contribution of the beta-ureidopropionase (UPB1) gene alterations to the development of fluoropyrimidine-related toxicity. Pharmacol Rep 64(5):1234–1242
8. Huang M, Graves LM (2003) De novo synthesis of pyrimidine nucleotides; emerging interfaces with signal transduction pathways. Cell Mol Life Sci 60(2):321–336
9. Kuhara T, Ohse M, Inoue Y, Shinka T (2009) Five cases of beta-ureidopropionase deficiency detected by GC/MS analysis of urine metabolome. J Mass Spectrom 44(2):214–221
10. Lundgren S, Lohkamp B, Andersen B, Piskur J, Dobritzsch D (2008) The crystal structure of beta-alanine synthase from Drosophila melanogaster reveals a homooctameric helical turn-like assembly. J Mol Biol 377(5):1544–1559
11. Matthews MM, Liao W, Kvalnes–Krick KL, Traut TW (1992) b-Alanine synthase: purification and allosteric properties. Arch Biochem Biophys 293:254–263
12. Nagasawa T, Wiesner M, Nakamura T, Iwahara H, Yoshida T, Gekko K (2000) Nitrilase of Rhodococcus rhodochrous J1 - Conversion into the active form by subunit association. Eur J Biochem 267:138–144
13. Ohse M, Matsuo M, Ishida A, Kuhara T (2002) Screening and diagnosis of beta-ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urine. J Mass Spectrom 37(9):954–962
14. Pace HC, Brenner C. (2001) The nitrilase superfamily: classification, structure and function. Genome Biol 2(1):REVIEWS0001
15. Schmieden V, Betz H (1995) Pharmacology of the inhibitory glycine receptor: agonist and antagonist actions of amino acids and piperidine carboxylic acid compounds. Mol Pharmacol 48(5):919–927
16. Signore AP, Zhang F, Weng Z, Gao Y, Chen J (2008) Leptin neuroprotection in the CNS: mechanisms and therapeutic potentials. J Neurochem 106(5):1977–1990
17. Sriram G, Martinez JA, McCabe ER, Liao JC, Dipple KM (2005) Single-gene disorders: what role could moonlighting enzymes play? Am J Hum Genet 76(6):911–924
18. Stevenson DE, Feng R, Dumas F, Groleau D, Mihoc A, Storer AC (1992) Mechanistic and structural studies on Rhodococcus ATCC 39484 nitrilase. Biotechnol Appl Biochem.15:283–302
19. Thomas HR, Ezzeldin HH, Guarcello V, Mattison LK, Fridley BL, Diasio RB (2008) Genetic regulation of beta-ureidopropionase and its possible implication in altered uracil catabolism. Pharmacogenet Genomics 18(1):25–35
20. Thuku RN, Weber BW, Varsani A, Sewell BT (2007) Post-translational cleavage of recombinantly expressed nitrilase from Rhodococcus rhodochrous J1 yields a stable, active helical form. FEBS J 274:2099–2108
21. Traut TW (1994) Physiological concentrations of purines and pyrimidines. Mol Cell Biochem 140(1):1–22
22. van Kuilenburg ABP (2004) Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil. Eur J Cancer 40(7):939–950
23. Van Kuilenburg ABP, Van Lenthe H, Van Gennip AH (1999) A radiochemical assay for beta-ureidopropionase using radiolabeled N-carbamyl-beta-alanine obtained via hydrolysis of [2-(14)C]5, 6-dihydrouracil. Anal Biochem 272(2):250–253
24. van Kuilenburg ABP, Haasjes J, Richel DJ et al (2000) Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene. Clin Cancer Res 6(12):4705–4712
25. van Kuilenburg ABP, Meinsma R, Zonnenberg BA et al (2003) Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity. Clin Cancer Res 9(12):4363–4367
26. van Kuilenburg ABP, Meinsma R, Beke E et al (2004a) beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Hum Mol Genet 13(22):2793–2801
27. van Kuilenburg ABP, Stroomer AE, Van Lenthe H, Abeling NG, Van Gennip AH (2004b) New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid? Biochem J 379(Pt 1):119–124
28. van Kuilenburg ABP, van Lenthe H, van Cruchten A, Kulik W (2004c) Quantification of 5,6-dihydrouracil by HPLC-electrospray tandem mass spectrometry. Clin Chem 50(1):236–238
29. van Kuilenburg ABP, Stroomer AE, Bosch AM, Duran M (2008) Beta-alanine and beta-aminoisobutyric acid levels in two siblings with dihydropyrimidinase deficiency. Nucleosides, Nucleotides Nucleic Acids 27(6):825–829
30. van Kuilenburg ABP, Dobritzsch D, Meijer J et al (2012) β-Ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients. Biochim Biophys Acta 1822(7):1096–1108
31. van Lenthe H, van Kuilenburg ABP, Ito T et al (2000) Defects in pyrimidine degradation identified by HPLC-electrospray tandem mass spectrometry of urine specimens or urine-soaked filter paper strips. Clin Chem 46(12):1916–1922
32. Vreken P, van Kuilenburg ABP, Hamajima N et al (1999) cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase. Biochim Biophys Acta 1447(2–3):251–257
33. Wasternack C (1980) Degradation of pyrimidines and pyrimidine analogs–pathways and mutual influences. Pharmacol Ther 8(3):629–651
34. Yaplito-Lee J, Pitt J, Meijer J, Zoetekouw L, Meinsma R, van Kuilenburg ABP (2008) Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems. Mol Genet Metab 93(2):190–194