Results 11 to 20 of about 2,017,541 (209)

Fatal Case Report of Methylmalonic Acidemia: Reflections on Organic Acidemias in Colombia [PDF]

Journal of Inborn Errors of Metabolism and Screening
Methylmalonic acidemia (MMA) is a rare hereditary metabolic disorder caused by defects in the methylmalonyl-CoA mutase pathway, leading to toxic metabolite accumulation and severe multi-organ complications.
Ana María Zarante Bahamon, Juan Sebastián Rincón Redondo, Sandra Navarro Marroquin, Dairo Jesús Cera Cabarcas, Juan Carlos Prieto Rivera   +4 more
doaj   +3 more sources

Brain Magnetic Resonance Imaging in Organic Acidemias: A Single Center Experience [PDF]

Pediatric Sciences Journal, 2023
Background: Organic acidemias (OAs) are a group of inherited diseases with a defect of amino acid metabolism, unless treatment is initiated early in life, they cause serious central nervous system (CNS) complications as seizures, encephalopathy and ...
Mohamed F. Ibrahim Marian Y. Girgis, Marian Y. Girgis, Sara I. Nassar, Hadeel M. Seif , Sara M. Kamel, Mona A. Kamel   +5 more
doaj   +2 more sources

The metabolomics of organic acidemias: current advances and future prospects

Journal of Rare Diseases
Organic acid disorders are an important entity of inborn errors of metabolism. They commonly present with an abrupt severe intoxication phenotype simulating sepsis, and if not promptly diagnosed and treated, they usually have irreversible neurological ...
Zeinab S. Abdelkhalek, Maha A. Abdelbaky, Mohamed A. Elmonem   +2 more
doaj   +2 more sources

Neuroimaging Findings of Organic Acidemias and Aminoacidopathies [PDF]

RadioGraphics, 2018
Although individual cases of inherited metabolic disorders are rare, overall they account for a substantial number of disorders affecting the central nervous system. Organic acidemias and aminoacidopathies include a variety of inborn errors of metabolism that are caused by defects in the intermediary metabolic pathways of carbohydrates, amino acids ...
Reddy, Nihaal, Calloni, Sonia F, Vernon, Hilary J, Boltshauser, Eugen, Huisman, Thierry A G M, Soares, Bruno P   +5 more
openaire   +3 more sources

Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much? [PDF]

J Inherit Metab Dis
ABSTRACT Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inherited metabolic disorders affecting valine and isoleucine catabolism. Long‐term therapy mainly involves dietary protein restriction. An amino acid mixture (AAM, medical food) free of the precursor amino acids is frequently used, especially when protein intake does not reach World
Margoses D, Imbard A, Pontoizeau C, Brassier A, Arnoux JB, Bouchereau J, Bérat CM, Assoun M, Belloche C, Dewulf S, Dubois S, Samba B, Servais A, Dao M, Le Guillou E, de Colnet A, Ottolenghi C, de Lonlay P, Benoist JF, Schiff M.   +19 more
europepmc   +2 more sources

Approach to Organic Acidemia [PDF]

Iranian Journal of Child Neurology, 2012
Organic acidemias, also known as organic acidurias, are a group of disorders characterized by increased excretion of organic acids in urine. They result primarily from deficiencies of specific enzymes in the breakdown pathways of amino acids or from ...
ZAMANI, Gholamreza
core   +3 more sources

Hypoaminoacidemia and Pyroglutamic Aciduria: Potential Biomarkers in Malnutrition-Related Hyperammonemia. [PDF]

JIMD Rep
ABSTRACT Hyperammonemia is a medical emergency, and the cause must be identified quickly in order to treat appropriately. Malnutrition is a known risk factor for hyperammonemia; however, there are limited reliable lab indicators used to identify malnutrition.
Crenshaw MM, D'Annibale OM, Martucci V, Gracie S, Kochhar A, Stansauk J, Larson A, Baker P, Peck C, Wood T, El-Gharbawy A, McCandless S, LoPiccolo MK.   +12 more
europepmc   +2 more sources

Are protein substitutes available in Italy for infants with inherited metabolic diseases all the same? [PDF]

Frontiers in Nutrition
IntroductionInherited metabolic diseases (IMDs) represent a major clinical challenge, especially during the neonatal and infant periods. They require tailored and long-term nutritional management to ensure proper growth and development.
Margherita Di Costanzo, Margherita Di Costanzo, Martina Tosi, Martina Tosi, Martina Muzi, Enrico Vito Buono, Valentina D’Onghia, Anna Munerati, Gabriele Tarditi, Simone Bruni, Elvira Verduci, Elvira Verduci, Giacomo Biasucci, Giacomo Biasucci   +13 more
doaj   +2 more sources

Management of COVID-19 infection in organic acidemias. [PDF]

Am J Med Genet A, 2021
The COVID‐19 pandemic has affected the health and healthcare of individuals of all ages worldwide. There have been multiple reports and reviews documenting a milder effect and decreased morbidity and mortality in the pediatric population, but there have ...
Kaur S, Campbell SL, Stockton DW.
europepmc   +2 more sources

Anthropometrics, Dietary Intake and Body Composition in Urea Cycle Disorders and Branched Chain Organic Acidemias: A Case Study of 18 Adults on Low-Protein Diets. [PDF]

Nutrients, 2022
Low-protein diets (LPDs) are the mainstream treatment for inborn errors of intermediary protein metabolism (IEIPM), but dietary management differs worldwide.
Gugelmo G, Lenzini L, Francini-Pesenti F, Fasan I, Spinella P, Valentini R, Miraval A, Avogaro A, Vitturi N.   +8 more
europepmc   +2 more sources