Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria.

Agnieszka KowalikJolanta Sykut-Cegielska


Methylmalonic aciduria is treated with a natural protein-restricted diet with adequate energy intake to sustain metabolic balance. Natural protein is a source of methylmalonic acid precursors, and intake is individually modified according to the severity and clinical course of the disease. The experience and approach to MMA treatment in European centers is variable with different amounts of natural protein and precursor-free l-amino acids being prescribed, although the outcome appears independent of the use of precursor-free l-amino acids. Further long-term outcome data is necessary for early treated patients with MMA. This case study, a woman with MMA followed from birth to the age of 35 years, including pregnancy, illustrates the long-term course of the disease and lifetime changes in dietary treatment. A low natural protein diet (1.5 g-1.0 g/kg/day) was the foundation of treatment, but temporary supplementation with precursor-free l-amino acids, vitamin-mineral mixture, and energy supplements were necessary at different timepoints (in childhood, adolescence, adulthood and pregnancy). Childhood psychomotor development was slightly delayed but within the normal range in adulthood. There were few episodes of metabolic decompens...Continue Reading


Jan 1, 1984·Journal of Inherited Metabolic Disease·R Rousson, P Guibaud
Feb 1, 1981·European Journal of Pediatrics·T SatohK Oohara
Mar 1, 1995·American Journal of Obstetrics and Gynecology·E DissC Roe
Oct 13, 1999·Journal of Inherited Metabolic Disease·M P WassersteinC Sansaricq
Jul 18, 2002·Journal of Inherited Metabolic Disease·F DeodatoC Dionisi-Vici
Oct 22, 2003·Molecular Genetics and Metabolism·Steven YannicelliGeorgianne L Arnold
Jun 10, 2006·Journal of Inherited Metabolic Disease·Philip J Lee
Sep 16, 2011·Journal of Inherited Metabolic Disease·Janneke G LangendonkElaine Murphy
Apr 2, 2014·BMJ Case Reports·Yves JacquemynFrancois Eyskens
Sep 11, 2014·Orphanet Journal of Rare Diseases·Matthias R BaumgartnerAnupam Chakrapani
Jan 9, 2015·Journal of Inherited Metabolic Disease·Donna B RavalCharles P Venditti
Nov 3, 2016·Current Opinion in Pediatrics·Jamie L Fraser, Charles P Venditti
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