Martín-Hernández I

Language: Spanish
References: 36
Page: 255-260
PDF size: 58.47 Kb.

ABSTRACT

Introduction: This work offers a theoretical and updated review about methylmalonic and propionic acidemias, directed not only to specialists on this topic, but also to neurologists interested in the knowledge of inborn errors of metabolism. Sources of information: Updated articles and books related to the theme. Internet consultation. Results: Methylmalonic and propionic acidemias are organic acidurias of autosomal recessive inheritance. Methylmalonic acidemia is due to metilmalonil-CoA mutase enzyme deficit or several defects in cofactor system biosynthesis, while propionic acidemia is due to propionil-CoA carboxilase enzyme deficit. Owing to organic acid and ammonium accumulation, these patients present several neurological symptoms that may produce coma and death. Fundamentally, the diagnosis of this disorder consists in the measurement of different metabolites in blood and urine and enzyme activity analysis. Treatment consists of a low-protein diet, a specialized formula that contains no precursor aminoacids and supplements of carnitine. Conclusions: Several health areas and specially neuropediatricians have relatively little experience in dealing with it, because this disorder is rare. A closer work between clinicians and laboratory for early diagnosis, prompt referral to a specialized center and a better attention to the health of our pediatric population are vital.

REFERENCES

1. Cornejo V, Raimann E. Errores innatos del metabolismo de los aminoácidos. En: Colombo M, Cornejo V, Raimann E, eds. Errores innatos del metabolismo del niño. 2ª ed. Santiago de Chile: Editorial Universitaria SA; 2003, p. 71-138.

2. Fenton WA, Rosenberg LE. Disorders of propionate and methylmalonate metabolism. In: Scriver Ch, Beaudet AL, Sly W, Valle D, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill Inc 2001; Vol. 2: 2165-94.

3. Organic acidemia association: Organic acid disorders. Available at URL: http://www.oaanews.org/definitions.asp. Accessed 02/12/05.

4. Online Mendelian Inheritance in Man: PropionylCoA carboxilasa, β subunit, 232050. Available at: URL: http// www.ncbi.nlm.nih.gov/OMIM. Accessed 02/12/05.

5. Online Mendelian Inheritance in Man: PropionylCoA carboxilasa, α subunit, 232000. Available at: URL: http// www.ncbi.nlm.nih.gov/OMIM. Accessed 02/12/05.

6. Desviat LR, Perez B, Perez-Cerda C, Rodriguez-Pombo P, Clavero S, Ugarte M. Propionic acidemia: mutation update and functional and structural effects of the variant alleles. Mol Genet Metab. 2004; 83 (1-2): 28-37.

7. Online Mendelian Inheritance in Man: Methylmalonic aciduria, CblB type, 251110. Available at: URL: http// www.ncbi.nlm.nih.gov/OMIM. Accessed 02/12/05.

8. Online Mendelian Inheritance in Man: Methylmalonic CoA mutase, 609058. Available at: URL: http// www.ncbi.nlm.nih.gov/OMIM. Accessed 02/12/05.

9. Online Mendelian Inheritance in Man: MMA gene, 607481. Available at: URL: http//www.ncbi.nlm.nih.gov/OMIM. Accessed 02/12/05.

10. Acquaviva C, Benoist JF, Pereira S, Callebaut I, Koskas T, Porquet D, et al. Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene. Hum Mut 2005; 25 (2): 167-76.

11. Nyhan WL. Disorders of valine-isoleucine metabolism. In: Blau N, Duran M, Blaskovics ME, editors. Physician´s guide to the laboratory diagnosis of metabolic diseases. 1st ed. London: Chapman & Hall; 1996, p. 145-62.

12. Online Mendelian Inheritance in Man: Propionic academia, 606054. Available at: URL: http// www.ncbi.nlm.nih.gov/OMIM. Accessed 02/12/05.

13. Online Mendelian Inheritance in Man: Methylmalonic academia, 251000. Available at: URL: http// www.ncbi.nlm.nih.gov/OMIM. Accessed 02/12/05.

14. Michael SJ, Given CA, Robertson WC. Imaging of the brain, including diffusion-weighted imaging in methylmalonic acidemia. Pediatr Radiol 2004; 34(7): 580-2.

15. Feliz B, Witt DR, Harris BT: Propionic acidemia: a neuropathology case report and review of prior cases. Arch Pathol Lab Med 2003; 127(8): 325-8.

16. Cornejo V, Colombo M, Durán G, Mabe P, Jiménez M, De la Parra A, et al. Diagnóstico y seguimiento de 23 niños con acidurias orgánicas. Rev Med Chil 2002: 130(3): 259-66.

17. Hori D, Hasegawa Y, Kimura M, Yang Y, Verma IC, Yamaguchi S. Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening. Brain Dev 2005; 27(1): 39-45.

18. Zschocke J, Hoffmann G. Metabolic pathways and their disorders. In: Zschocke J, Hoffmann G, eds. Vademecum metabolicum. Manual of metabolic pedriatrics. 2nd ed. Stuttgart: Milupa GmbH & Co. KG; 1999, p. 35-56.

19. Sajurjo P. Acidemia metilmalónica y propiónica. En: Sajurjo P, Baldellou A, eds. Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias. 1a ed. Madrid: Ergon; 2001. p. 247-55.

20. Shigematsu Y, Hirano S, Hata I, Tanaka Y, Sudo M, Sakura N, et al. Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan. J Chromatogr B Analyt Technol Biomed Life Sci. 2002; 776 (1): 39-48.

21. Pollitt RJ, Green A, McCabe CJ, Leonard JV, Nicholl J, Nicholson P, et al. Neonatal screening for inborn errors of metabolism: cost, yield and outcome. Health Technol Assess 1997; 1 (7): 1-191.

22. Inoue Y, Kuhara T. Rapid and sensitive method for prenatal diagnosis of propionic acidemia using stable isotope dilution gas chromatography-mass spectrometry and urease pretreatment. J Chromatogr B Analyt Technol Biomed Life Sci. 2002; 776 (1): 71-7.

23. Perez-Cerda C, Perez B, Merinero B, Desviat LR, Rodriguez- Pombo P, Ugarte M. Prenatal diagnosis of propionic acidemia. Prenat Diagn. 2004 Dec 15; 24 (12): 962-4.

24. Morel CF, Watkins D, Scott P, Rinaldo P, Rosenblatt DS. Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport. Mol Genet Metab 2005; 86 (1-2): 160-71.

25. Coude M, Chadefaux B, Rabier D, Kamoun P. Early amniocentesis and amniotic fluid organic acid levels in the prenatal diagnosis of organic acidemias. Clin Chim Acta 1990; 187(3): 329-32.

26. Campistol J, Boveda MC, Couce ML, Lluch MD, Merinero B. Protocolo de diagnóstico y tratamiento de la acidemia propiónica-metilmalónica-isovalérica. An Esp Pediatr 1997; 89: 9-15.

27. Ramos BE, Pascual M. Tratamiento dietético de las enfermedades metabólicas. Inf Ter Sist Nac Salud 2005; 29: 81-95.

28. Walter JH, Leonard JV, Thompson GN, Halliday D. Parenteral nutrition in propionic acidemia and methylmalonic acidemia. J Pediatr. 1990; 117 (2 Pt 1): 338-9.

29. Andersson HC, Marble M, Shapira E. Long-term outcome in treated combined methylmalonic acidemia and homocystinemia. Genet Med 1999; 1(4): 146-50.

30. Sass JO, Hofmann M, Skdadal D, Mayatepek E, Schwahn B, Sperl W. Propionic acidemia revised: a workhop report. Clin Pediatr (Phila) 2004; 43(9): 837-43.

31. Di Donato S, Rimoldi M, Garavaglia B, Uziel G. Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency. Clin Chim Acta 1984 16; 139(1): 13-21.

32. Leonard J. The management and outcome of propionic and methylmalonic acidemia. J Inher Metab Dis 1995; 18(4): 430-4.

33. Ruiz M, Santana C, Trujillo R, Sánchez F. Aproximación al tratamiento nutricional de los errores innatos del metabolismo. Acta Pediatr Esp 2002; 60 10): 528-44.

34. Thompson GN, Chalmers RA, Walter JH, Bresson JL, Lyonnet SL, Reed PJ, et al. The use of metronidazole in management of methylmalonic and propionic acidaemias. Eur J Pediatr 1990; 149 (11): 792-6.

35. Meyburg J, Hoffmann GF. Liver transplantation for inborn errors of metabolism. Transplantation 2005; 80 (1): 135-7.

36. Kayler LK, Merion RM, Lee S, Sung RS, Punch JD, Rudich SM, et al. Long-term survival after liver transplantation in children with metabolic disorders. Pediatr Transplant. 2002; 6(4): 295-300.