Ammonia is a neurotoxic compound which is detoxified through liver enzymes from urea
cycle. Several inherited or acquired conditions can elevate ammonia concentrations in …

Background The 'classic'organic acidaemias (OAs)(propionic, methylmalonic and isovaleric)
typically present in neonates or infants as acute metabolic decompensation with …

Meta-analyses suggest that yogurt consumption reduces type 2 diabetes incidence in
humans, but the molecular basis of these observations remains unknown. Here we show …

Methylmalonic acidemia (MMA) is a rare inborn error of metabolism caused by deficiency of
the methylmalonyl-CoA mutase (MUT) enzyme. Downstream MUT deficiency, methylmalonic …

Organic acidurias (OADs) are inherited neurometabolic diseases largely caused by
deficiencies in enzymes involved in amino acid degradation, which result in accumulation of …

Metabolomics strives to capture the entirety of the metabolites in a biological system by
comprehensive analysis, often by liquid chromatography hyphenated to mass spectrometry …

Methylmalonic acid (MMA) can act as a diagnosis of hereditary methylmalonic acidemia and
assess the status of vitamin B12. Moreover, as a new potential biomarker, it has been widely …

Organic acids (OAs) are intermediary products of several amino acid catabolism or
degradation via multiple biochemical pathways for energy production. Vitamins or co-factors …

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 …

Fatty acid oxidation disorders (FAOD) are inborn errors of metabolism that occur due to
deficiency of specific enzyme activities and transporter proteins involved in the mitochondrial …