Mutations underlying 3-Hydroxy-3-Methylglutaryl CoA Lyase deficiency in the Saudi population

BMC Medical Genetics

Volumn 7, Issue , 2006, Pages

  Al Sayed, Moeenaldeen ^a   Imtiaz, Faiqa ^a   Alsmadi, Osama A ^a   Rashed, Mohammed S ^a   Meyer, Brian F ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; GUANINE; HYDROXYMETHYLGLUTARYL COENZYME A SYNTHASE;

3 HYDROXY 3 METHYLGLUTARIC ACIDURIA; ACIDURIA; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME; CLINICAL ARTICLE; CONSANGUINITY; ENZYME DEFICIENCY; FOUNDER EFFECT; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; MUTATION RATE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PATIENT SELECTION; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; SAUDI ARABIA;

BASE SEQUENCE; FRAMESHIFT MUTATION; HOMOZYGOTE; HUMANS; METABOLISM, INBORN ERRORS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OXO-ACID-LYASES; POLYMERASE CHAIN REACTION; SAUDI ARABIA;

EID: 33846517685     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-7-86     Document Type: Article

References (27)

1. Ashmarina LI PAV Branda SS, Isaya G, Mitchell GA 3-Hydroxy-3-methylglutaryl coenzyme A lyase: Targeting and processing in peroxisomes and mitochondria J Lipid Res 1999 40 1 70-75 9869651
2. Wysocki SJ HR 3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: A review J Inherit Metab Dis 1986 9 3 225-233 10.1007/BF01799652 3099065
3. Ozand PT DEB Gascon GG Neurometabolic diseases at a national referral center: Five years experience at the King Faisal Specialist Hospital and Research Centre J Child Neurol 1992 7 Suppl S4-11 1588014
4. Muroi J YT Uematsu A, Shigematsu Y, Onigata K, Maruyama H, Nobutoki T, Kitamura A, Nakahata T Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency Hum Genet 2000 107 4 320-326 10.1007/s004390000363 11129331
5. Cardoso MLRMR Leao E, Martins E, Diogo L, Rodrigues E, Garcia P, Rolland MO, Vilarinho L The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency Mol Genet Metab 2004 82 4 334-338 10.1016/j.ymgme.2004.06.003 15308132
6. Rashed MS OPT Bucknall MP, Little D Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry Pediatr Res 1995 38 3 324-331 7494654
7. Faull KF BPD Halpern B, Hammond J, Danks DM The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria Clin Chim Acta 1976 73 3 553-559 10.1016/0009-8981(76)90160-1 1000872
8. Gibson KM BJ Nyhan WL 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Review of 18 reported patients Eur J Pediatr 1988 148 3 180-186 10.1007/BF00441397 3063529
9. Wysocki SJ HR 3-Hydroxy-3-methylglutaric aciduria: 3-hydroxy-3-methylglutaryl-coenzyme A lyase levels in leucocytes Clin Chim Acta 1976 73 2 373-375 10.1016/0009-8981(76)90186-8 1000856
10. Wanders RJ SRB Zoeters PH 3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: Study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method Clin Chim Acta 1988 171 1 95-101 10.1016/ 0009-8981(88)90294-X 2450702
11. Mitchell GA RMF Hruz PW, Wang S, Fontaine G, Behnke CE, Mende-Mueller LM, Schappert K, Lee C, Gibson KM et al 3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency J Biol Chem 1993 268 6 4376-4381 8440722
12. Wang S NJH Duncan A, Robert MF, Fontaine G, Schappert K, Johnson KR, Zietkiewicz E, Hruz P, Miziorko H et al 3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL): Cloning and characterization of a mouse liver HL cDNA and subchromosomal mapping of the human and mouse HL genes. Mamm Genome 1993 4 7 382-387 10.1007/BF00360589 8102917
13. Wang SP RMF Gibson KM, Wanders RJ, Mitchell GA 3-Hydroxy-3-methylglutaryl CoA lyase (HL): Mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients Genomics 1996 33 1 99-104 10.1006/geno.1996.0164 8617516
14. Buesa C PJ Barcelo A, Casals N, Mascaro C, Casale CH, Haro D, Duran M, Smeitink JA, Hegardt FG Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency J Lipid Res 1996 37 11 2420-2432 8978493
15. Pie J Casals N Casale CH Buesa C Mascaro C Barcelo A Rolland MO Zabot T Haro D Eyskens F Divry P Hegardt FG A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency Biochem J 1997 323 (Pt 2) 329-335 1218323 9163320
16. Casals N Pie J Casale CH Zapater N Ribes A Castro-Gago M Rodriguez-Segade S Wanders RJ Hegardt FG A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3-hydroxy-3-methylglutaric aciduria J Lipid Res 1997 38 11 2303-2313 9392428
17. Funghini S PE Cappellini M, Donati MA, Morrone A, Fonda C, Zammarchi E 3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene Mol Genet Metab 2001 73 3 268-275 10.1006/mgme.2001.3191 11461194
18. Mitchell GA OPT Robert MF, Ashmarina L, Roberts J, Gibson KM, Wanders RJ, Wang S, Chevalier I, Plochl E et al HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q Am J Hum Genet 1998 62 2 295-300 1376904 9463337 10.1086/301730
19. Dean FB HS Fang L, Wu X, Faruqi AF, Bray-Ward P, Sun Z, Zong Q, Du Y, Du J et al Comprehensive human genome amplification using multiple displacement amplification Proc Natl Acad Sci U S A 2002 99 8 5261-5266 122757 11959976 10.1073/pnas.082089499
20. 4 Website title http://www.mjr.com
21. 3 Website title http://www.amersham.com
22. 5 Website title http://www.ensembl.org
23. 2 Website title http://frodo.wi.mit.edu/
24. Pospisilova E ML Hrda J, Martincova O, Zeman J Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria J Inherit Metab Dis 2003 26 5 433-441 10.1023/A:1025169210121 14518825
25. Fathallah DM BM Lepaslier D, Chater K, Sly WS, Dellagi K Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: Evidence for founder effect and genomic recombination at the CA II locus Hum Genet 1997 99 5 634-637 10.1007/s004390050419 9150731
26. Ozand PT AA Gascon G, Brismar J, Thomas E, Gleispach H 3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia J Inherit Metab Dis 1991 14 2 174-188 10.1007/BF01800590 1886403
27. Dasouki M BD Mercer N, Gibson KM, Thoene J 3-Hydroxy-3-methylglutaric aciduria: Response to carnitine therapy and fat and leucine restriction J Inherit Metab Dis 1987 10 2 142-146 10.1007/BF01800039 2443756