A broad spectrum of signs and symptoms has been attributed to primary carnitine deficiency
(PCD) since its first description in 1973. Advances in diagnostic procedures have improved …

The diagnosis of inborn errors of metabolism (IEM) takes many forms. Due to the
implementation and advances in newborn screening (NBS), the diagnosis of many IEM has …

2++ Высококачественные систематические обзоры исследований случай-контроль или
когортных исследований. Высококачественные обзоры исследований случай-контроль …

Abstract d-2-Hydroxyglutarate (D-2HG) is an α-ketoglutarate-derived mitochondrial
metabolite that causes d-2-hydroxyglutaric aciduria, a devastating developmental disorder …

Objectives The analysis of organic acids in urine is an important part of the diagnosis of
inherited metabolic disorders (IMDs), for which gas chromatography coupled with mass …

The utility of low-resolution 1H-NMR analysis for the identification of biomarkers provided
evidence for rapid biochemical diagnoses of organic acidemia and aminoacidopathy. 1H …

Methylmalonic Acidurias (MMAs) are a group of inborn errors of metabolism (IEMs),
specifically of propionate catabolism characterized by gastrointestinal and neurometabolic …

Accumulation of methylcitrate is a biochemical hallmark of inborn errors of propionate
metabolism, a group of disorders that include propionic acidemia, methylmalonic aciduria …

Background: Cardiac involvement is reported in a significant proportion of patients with
classical organic acidurias (OAs), contributing to disability and premature death. Different …

Inborn errors of metabolism cause abnormal synthesis, recycling, or breakdown of amino
acids, neurotransmitters, and other various metabolites. This aberrant homeostasis …