Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria

Clinical Genetics

Volumn 69, Issue 1, 2006, Pages 72-76

  Cavicchi, C ^a   Donati, M A ^a   Funghini, S ^a   la Marca, G ^a   Malvagia, S ^a   Ciani, F ^a   Poggi, G M ^a   Pasquini, E ^a   Zammarchi, Enrico ^a   Morrone, A ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

Author keywords

GC MS; LC MS MS; Methylmalonyl CoAmutase; MMA; MUT; Prenatal diagnosis

Indexed keywords

ADENINE; COMPLEMENTARY DNA; GLYCINE; GUANINE; METHYLMALONIC ACID; METHYLMALONYL COENZYME A MUTASE; PROPIONYLCARNITINE; SERINE;

AMNION FLUID ANALYSIS; ARTICLE; BIOASSAY; CASE REPORT; CHORION VILLUS SAMPLING; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DNA SEQUENCE; EARLY DIAGNOSIS; FETUS; GAS CHROMATOGRAPHY; GENETIC SCREENING; GESTATIONAL AGE; HOMOZYGOSITY; HUMAN; LIQUID CHROMATOGRAPHY; MALE; MASS SPECTROMETRY; METHYLMALONIC ACIDURIA; MUTATIONAL ANALYSIS; NEWBORN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; QUANTITATIVE ASSAY;

AMINO ACID METABOLISM, INBORN ERRORS; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GESTATIONAL AGE; HUMANS; METHYLMALONIC ACID; MOLECULAR SEQUENCE DATA; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 33644854776     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2005.00547.x     Document Type: Article

References (24)

1. Fenton WA, Gravel RA, Rosenblatt DS. Disorders of propionate and methylmalonate metabolism. Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, Vol. 2. New York: McGraw-Hill, 2001: 2165-2193.
2. Acquaviva C, Benoist JF, Pereira S et al. Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(0) and mut - forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene. Hum Mutat 2005: 25 (2): 167-176.
3. Martinez MA, Rincon A, Desviat LR, Merinero B, Ugarte M, Perez B. Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. Mol Genet Metab 2005: 84 (4): 317-325.
4. Jung JW, Hwang IT, Park JE et al. Mutation analysis of the MCM gene in Korean patients with MMA. Mol Genet Metab 2005: 84 (4): 367-370.
5. Fuchshuber A, Mucha B, Baumgartner ER, Vollmer M, Hildebrandt F. mut0 methylmalonic acidemia: Eleven novel mutations of the methylmalonyl-CoA mutase including a deletion-insertion mutation. Hum Mutat 2000: 16 (2): 179-185.
6. Zammarchi E, Lippi A, Falorni S, Pasquini E, Cooper BA, Rosenblatt DS cblC disease: Case report and monitoring of a pregnancy at risk by chorionic villus sampling. Clin Invest Med 1990: 13 (3): 139-142.
7. Penn D, Schmidt-Sommerfeld E, Jakobs C, Bieber LL. Amniotic fluid propionylcarnitine in methylmalonic aciduria. J Inherit Metab Dis 1987: 10 (4): 376-382.
8. Shigematsu Y, Hata I, Nakal A et al. Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitine. Pediatr Res 1996: 39 (4): 680-684.
9. Hasegawa Y, Iga M, Kimura M, Shigematsu Y, Yamaguchi S. Prenatal diagnosis for organic acid disorders using two mass spectrometric methods, gas chromatography mass spectrometry and tandem mass spectrometry. J Chromatogr B Anal Technol Biomed Life Sci 2005: 823 (1): 13-17.
10. Tanaka K, West-Dull A, Hine DG, Lynn TB, Lowe T. Gas-chromatographic method of analysis for urinary organic acids. II. Description of the procedure, and its application to diagnosis of patients with organic acidurias. Clin Chem 1980: 26 (13): 1847-1853.
11. Jakobs C, Ten Brink HJ, Stellaard F. Prenatal diagnosis of inherited metabolic disorders by quantitation of characteristic metabolites in amniotic fluid: Facts and future. Prenat Diagn 1990: 10 (4): 265-271.
12. la Marca G, Malvagia S, Donati MA, Morrone A, Pasquini E, Zammarchi E. Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatographytandem mass spectrometry. Rapid Commun Mass Spectrom 2003: 17 (23): 2688-2692.
13. Nham SU, Wilkemeyer MF, Ledley FD. Structure of the human methylmalonil-CoA mutase (MUT) locus. Genomics 1990: 8 (4): 710-716.
14. Crane AM, Jansen R, Andrews ER, Ledley FD. Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut - methylmalonic aciduria. J Clin Invest 1992: 89 (2): 385-391.
15. Cavicchi C, Morrone A, Bardelli T et al. Genotype-phenotype correlations in methylmalonyl-CoA mutase deficiency. Am J Hum Genet 2001: 69 (S) (648): Abstract 2746.
16. Acquaviva C, Benoist JF, Callebaut I et al. N219Y, a new frequent mutation among mut 0 forms of methylmalonic acidemia in Caucasian patients. Eur J Hum Genet 2001: 9 (8): 577-582.
17. Thoma NH, Leadlay PF. Homology modelling of human methylmalonyl-CoA mutase: A structural basis for point mutations causing methylmalonic aciduria. Protein Sci 1996: 5 (9): 1922-1927.
18. Jakobs C. Prenatal diagnosis of inherited metabolic disorders by stable isotope dilution GC-MS analysis of metabolites in amniotic fluid: Review of four years experience. J Inherit Metab Dis 1989: 12 (Suppl. 2): 267-270.
19. Fowler B, Jakobs C. Post- and prenatal diagnostic methods for the homocystinurias. Eur J Pediatr 1998: 157 (Suppl. 2): S88-S93.
20. Holm J, Ponders L, Sweetman L. Prenatal diagnosis of propionic and methylmalonic acidaemia by stable isotope dilution analysis of amniotic fluid. J Inherit Metab Dis 1989: 12 (Suppl. 2): 271-273.
21. Kamoun PP, Chadefaux B. Eleventh week amniocentesis for prenatal diagnosis of some metabolic diseases. Prenat Diagn 1991: 11 (9): 691-696.
22. Fowler B, Giles L, Sardharwalla IB, Donnai P, Clayton JK. First trimester diagnosis of methylmalonic aciduria. Prenat Diagn 1988: 8 (3): 207-213.
23. Fowler B, Giles L, Cooper A, Sardharwalla IB. Chorionic villus sampling: diagnostic uses and limitations of enzyme assays. J Inherit Metab Dis 1989: 12 (Suppl. 1): 105-117.
24. Fensom AH, Benson PF, Chalmers RA et al. Experience with prenatal diagnosis of propionic acidaemia and methylmalonic aciduria. J Inherit Metab Dis 1984: 7 (Suppl. 2): 127-128.