Methylmalonic Acidemia: Can Treatment be Improved?
DOI:
https://doi.org/10.6000/1929-5634.2015.04.01.6Keywords:
MMA, hyperammonemia, carnitine, carglumic acid, newborn screen.Abstract
Methylmalonic acidemia (MMA) is a severe metabolic disorder, particularly with complete deficiency of methylmalonyl-CoA mutase. Dietary restriction has led to overt signs of deficiencies including skin rashes, hair loss, and poor growth. More liberal intake of the restricted amino acids has resulted in better growth and less frequent episodes of illness.References
[1] Manoli I, Venditti CP. Methylmalonicacidemia 2005-2010. GeneReviews at NCBI Bookshelf. Seattle: University of Washington. Available at: http://www.ncbi.nlm.nih.gov/books/ NBK1231/?report=printable. Accessed October 2, 2011.
[2] Chase DH, Diperna JC, Kalas TA, Johnsosn RW, Naylor EW. Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns. Clin Chem 2001; 47: 2040-2004.
[3] Lee N, Chien Y, Peng S, Huang AC, Liu TT, Wu AS, et al. Brain damage by mild metabolic derangements in methylmalonicacidemia. Pediatr Neurol 2008; 39(5): 325-329.
http://dx.doi.org/10.1016/j.pediatrneurol.2008.07.018
[4] Shevell MI, Matiaszuk N, Ledley FD, Rosenblatt DS. Varying neurological phenotypes among mut0 and mut- patients with methylmalonyl CoA mutase deficiency. Am J Med Genet 1993; 45: 619-624.
http://dx.doi.org/10.1002/ajmg.1320450521
[5] Knerr I, Weinhold N, Vockely J, Gibson KM. Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects. J Inherit Metab Dis 2012; 35(1): 29-40.
http://dx.doi.org/10.1007/s10545-010-9269-1
[6] Yannicelli S. Nutrition therapy of organic acidaemias with amino acid-based formulas: emphasis on methylmalonic and propionic acidaemia. J Inherit Metab Dis 2006; 29: 281-281.
http://dx.doi.org/10.1007/s10545-006-0267-2
[7] Yannicelli S, Acosta PB, Velasquez A, Bock HG, Marriage B, Kurczynski TW, et al. Improved growth and nutritional status in children with methylmalonic or propionic acidemia fed an elemental medical food. Mol Genet Metab 2003; 80: 181-188.
http://dx.doi.org/10.1016/j.ymgme.2003.08.012
[8] Kahler SG, Millington DS, Cederbaum SD, Vargas J, Bond LD, Maltby DA, et al. Parenteral nutrition in propionic and methylmalonicacidemia. J Pediatr 1989; 115: 235-241.
http://dx.doi.org/10.1016/S0022-3476(89)80071-X
[9] Hauser NS, Manoli I, Graf JC, Sloan J, Venditti CP. Variable dietary management of methylmalonicacidemia: metabolic and energetic correlations. Am J Clin Nutr 2011; 93: 47-56.
http://dx.doi.org/10.3945/ajcn.110.004341
[10] Pratt EL, Snyderman SE, Cheung MW, Norton P, Holt LE Jr, Hansen AE, Panos TC. The threonine requirement of the normal infant. J Nutr 1955; 56: 231-251.
[11] Acosta PB, Yannicelli S, Singh RH, Mofidi S, Steiner r, DeVicentis E, et al. Nutrient intakes and physical growth of children with phenylketonuria undergoing nutritional therapy. J Am Diet Assoc 2003; 103: 1167-1173.
[12] Hermann ME, Brosicke HG, Koeller M, Monch E, Helge H. Dependence of the utilization of phenylalanine-free amino acid mixture on different amounts of single dose ingested. Eur J Pediatr 1994; 153: 501-503.
http://dx.doi.org/10.1007/BF01957005
[13] Scafidi S, Fiskum G, Lindauer SL, Bamford P, Shi D, Hopkins I, McKenna MC. Metabolism of acetyl-L-carnitine for energy and neurotransmitter synthesis in the immature rat brain. J Neurochem 2010; 114(3): 820-31.
http://dx.doi.org/10.1111/j.1471-4159.2010.06807.x
[14] Levrat V, Forest I, Fouilhoux, Acquaviva C, Vianey-Saban C, Guffon N. Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia? Orphanet J Rare Dis 2008; 30(3): 2.
[15] Watkins D, Rosenblatt DS. Inborn errors of cobalamin absorption and metabolism. Am J Med Genet Part C Semin Med Genet 2011; 157: 33-44.
http://dx.doi.org/10.1002/ajmg.c.30288
[2] Chase DH, Diperna JC, Kalas TA, Johnsosn RW, Naylor EW. Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns. Clin Chem 2001; 47: 2040-2004.
[3] Lee N, Chien Y, Peng S, Huang AC, Liu TT, Wu AS, et al. Brain damage by mild metabolic derangements in methylmalonicacidemia. Pediatr Neurol 2008; 39(5): 325-329.
http://dx.doi.org/10.1016/j.pediatrneurol.2008.07.018
[4] Shevell MI, Matiaszuk N, Ledley FD, Rosenblatt DS. Varying neurological phenotypes among mut0 and mut- patients with methylmalonyl CoA mutase deficiency. Am J Med Genet 1993; 45: 619-624.
http://dx.doi.org/10.1002/ajmg.1320450521
[5] Knerr I, Weinhold N, Vockely J, Gibson KM. Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects. J Inherit Metab Dis 2012; 35(1): 29-40.
http://dx.doi.org/10.1007/s10545-010-9269-1
[6] Yannicelli S. Nutrition therapy of organic acidaemias with amino acid-based formulas: emphasis on methylmalonic and propionic acidaemia. J Inherit Metab Dis 2006; 29: 281-281.
http://dx.doi.org/10.1007/s10545-006-0267-2
[7] Yannicelli S, Acosta PB, Velasquez A, Bock HG, Marriage B, Kurczynski TW, et al. Improved growth and nutritional status in children with methylmalonic or propionic acidemia fed an elemental medical food. Mol Genet Metab 2003; 80: 181-188.
http://dx.doi.org/10.1016/j.ymgme.2003.08.012
[8] Kahler SG, Millington DS, Cederbaum SD, Vargas J, Bond LD, Maltby DA, et al. Parenteral nutrition in propionic and methylmalonicacidemia. J Pediatr 1989; 115: 235-241.
http://dx.doi.org/10.1016/S0022-3476(89)80071-X
[9] Hauser NS, Manoli I, Graf JC, Sloan J, Venditti CP. Variable dietary management of methylmalonicacidemia: metabolic and energetic correlations. Am J Clin Nutr 2011; 93: 47-56.
http://dx.doi.org/10.3945/ajcn.110.004341
[10] Pratt EL, Snyderman SE, Cheung MW, Norton P, Holt LE Jr, Hansen AE, Panos TC. The threonine requirement of the normal infant. J Nutr 1955; 56: 231-251.
[11] Acosta PB, Yannicelli S, Singh RH, Mofidi S, Steiner r, DeVicentis E, et al. Nutrient intakes and physical growth of children with phenylketonuria undergoing nutritional therapy. J Am Diet Assoc 2003; 103: 1167-1173.
[12] Hermann ME, Brosicke HG, Koeller M, Monch E, Helge H. Dependence of the utilization of phenylalanine-free amino acid mixture on different amounts of single dose ingested. Eur J Pediatr 1994; 153: 501-503.
http://dx.doi.org/10.1007/BF01957005
[13] Scafidi S, Fiskum G, Lindauer SL, Bamford P, Shi D, Hopkins I, McKenna MC. Metabolism of acetyl-L-carnitine for energy and neurotransmitter synthesis in the immature rat brain. J Neurochem 2010; 114(3): 820-31.
http://dx.doi.org/10.1111/j.1471-4159.2010.06807.x
[14] Levrat V, Forest I, Fouilhoux, Acquaviva C, Vianey-Saban C, Guffon N. Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia? Orphanet J Rare Dis 2008; 30(3): 2.
[15] Watkins D, Rosenblatt DS. Inborn errors of cobalamin absorption and metabolism. Am J Med Genet Part C Semin Med Genet 2011; 157: 33-44.
http://dx.doi.org/10.1002/ajmg.c.30288
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Published
2015-04-30
How to Cite
Michals-Matalon, K., Lombardo, R., Bilger, K., Ross, N., Fuller, K., Freedenberg, D., & Matalon, R. (2015). Methylmalonic Acidemia: Can Treatment be Improved?. Journal of Nutritional Therapeutics, 4(1), 28–32. https://doi.org/10.6000/1929-5634.2015.04.01.6
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