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

Medicina
Agnieszka KowalikJolanta Sykut-Cegielska

Abstract

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

References

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
Dec 18, 2019·Journal of Pediatric Endocrinology & Metabolism : JPEM·Alex PintoAnita MacDonald

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
Shahid MahmudSalman Ali
Minnesota Medicine
Dave Kenney
American Journal of Medical Genetics. Part a
Randall ChanRajkumar Venkatramani
© 2021 Meta ULC. All rights reserved