Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias. [PDF]
Biomed Res Int, 2016 Organic acidemias (OAs) are inherited metabolic disorders caused by deficiency of enzymatic activities in the catabolism of amino acids, carbohydrates, or lipids. These disorders result in the accumulation of mono-, di-, or tricarboxylic acids, generally
Imperlini E +5 more
europepmc +2 more sources
Pediatric Reports, 2023 Background: Expanded newborn screening using tandem mass spectrometry (MS/MS) for inborn errors of metabolism (IEM), such as organic acidemias (OAs), fatty acid oxidation disorders (FAODs), and amino acid disorders (AAs), is increasingly popular but has ...
Faïza Meiouet +3 more
doaj +1 more source
The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening. [PDF]
JIMD Rep, 2017 Wilson C +5 more
europepmc +2 more sources
Chronic Oral L-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions. [PDF]
JIMD Rep, 2016 Miller MJ +6 more
europepmc +2 more sources
Methylmalonic Acidemia- A Rare Inborn Error of Metabolism [PDF]
Indian Journal of Neonatal Medicine and Research, 2016 The methylmalonic acidemias (MMA) are a heterogeneous group of autosomal recessive inborn errors of organic acid metabolism. The hallmark of MMA is hyperammonemia, encephalopathy and metabolic acidosis in infancy and especially so in neonatal age ...
Charusheela Sujit Korday +4 more
doaj +1 more source
Altered immune response in organic acidemia
Pediatrics International, 2022 AbstractBackgroundMost patients with organic acidemia suffer from recurrent infections. Although neutropenia has been reported in multiple studies, other components of the immune system have not been evaluated thoroughly. This study was conducted to assess the immune status of patients with organic acidemia (OA).MethodsThirty‐three patients with OA who
Ilayda Altun +9 more
openaire +2 more sources
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies [PDF]
, 2014 Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS).
Bernard, Geneviève +14 more
core +5 more sources
Diagnosis and clinical features of organic acidemias: A hospital-based study in a single center in Damascus, Syria. [PDF]
Qatar Med J, 2015 Background: Organic acidemias (OA) are a group of heterogeneous metabolic inherited disorders characterized by the accumulation of organic acids in body fluids and tissues. These are rare disorders and infrequently reported worldwide.
Shennar HK +3 more
europepmc +2 more sources
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia [PDF]
, 2016 BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts ...
Abdullah Alzaben +8 more
core +1 more source
Jornal de Pediatria, 2001 OBJETIVO: o objetivo deste trabalho foi o de verificar a prevalência das acidúrias orgânicas em pacientes brasileiros de alto risco. MÉTODOS: técnicas laboratoriais para a detecção e quantificação de ácidos orgânicos por cromatografia gasosa acoplada à ...
Moacir Wajner +9 more
doaj +1 more source