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

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 exper...

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Autores principales: Kowalik, Agnieszka, MacDonald, Anita, Sykut-Cegielska, Jolanta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7912855/
https://www.ncbi.nlm.nih.gov/pubmed/33540566
http://dx.doi.org/10.3390/medicina57020128
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author Kowalik, Agnieszka
MacDonald, Anita
Sykut-Cegielska, Jolanta
author_facet Kowalik, Agnieszka
MacDonald, Anita
Sykut-Cegielska, Jolanta
author_sort Kowalik, Agnieszka
collection PubMed
description 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 decompensation requiring IV glucose, but at age 27 years, she required intensive care following steroid treatment. In pregnancy, she remained stable but received intensive biochemical and medical follow-up. This successful long-term follow-up of a patient with MMA from childhood, throughout pregnancy, delivery, and postpartum confirms that careful clinical, biochemical, and dietetic monitoring is crucial to ensure a favourable outcomes in MMA. Personalized treatment is necessary according to the individual clinical course. Knowledge about long-term treatment and clinical outcome is important information to influence future MMA clinical guidelines.
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spelling pubmed-79128552021-02-28 Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria Kowalik, Agnieszka MacDonald, Anita Sykut-Cegielska, Jolanta Medicina (Kaunas) Case Report 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 decompensation requiring IV glucose, but at age 27 years, she required intensive care following steroid treatment. In pregnancy, she remained stable but received intensive biochemical and medical follow-up. This successful long-term follow-up of a patient with MMA from childhood, throughout pregnancy, delivery, and postpartum confirms that careful clinical, biochemical, and dietetic monitoring is crucial to ensure a favourable outcomes in MMA. Personalized treatment is necessary according to the individual clinical course. Knowledge about long-term treatment and clinical outcome is important information to influence future MMA clinical guidelines. MDPI 2021-02-02 /pmc/articles/PMC7912855/ /pubmed/33540566 http://dx.doi.org/10.3390/medicina57020128 Text en © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Kowalik, Agnieszka
MacDonald, Anita
Sykut-Cegielska, Jolanta
Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria
title Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria
title_full Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria
title_fullStr Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria
title_full_unstemmed Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria
title_short Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria
title_sort dietary treatment from birth to pregnancy in a woman with methylmalonic aciduria
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7912855/
https://www.ncbi.nlm.nih.gov/pubmed/33540566
http://dx.doi.org/10.3390/medicina57020128
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