Neurometabolic diseases (NMDs) are typically caused by genetic abnormalities affecting
enzyme functions, which in turn interfere with normal development and activity of the …

Reactive oxygen species (ROS; eg., superoxide [O2•−] and hydrogen peroxide [H2O2]) and
reactive nitrogen species (RNS; eg., nitric oxide [NO•]) at the physiological level function as …

Leucine, isoleucine and valine are essential aminoacids termed branched-chain amino
acids (BCAA) due to its aliphatic side-chain. In several pathological and physiological …

Branched‐chain amino acids (BCAA: leucine, isoleucine and valine) are essential amino
acids implicated in glucose metabolism and maintenance of correct brain function. Elevated …

Organic acidurias are inherited metabolic diseases due to the deficiency of an enzyme or a
transport protein involved in one of the several cellular metabolic pathways devoted to the …

Objective Several trials investigated the efficacy of L-carnitine administration on markers of
inflammation and indicators of oxidative stress; however, their findings are controversial. The …

Maple syrup urine disease (MSUD) is an autosomal recessive neurometabolic disorder
caused by severe deficiency of branched-chain α-keto acid dehydrogenase complex activity …

Maple syrup urine disease (MSUD) is caused by a deficiency in the activity of the branched‐
chain α‐ketoacid dehydrogenase (BCKD) complex, promoting the accumulation of the …

Reducing immunosuppressant-related complications using conventional drugs is an
efficient therapeutic strategy. L-carnitine (LC) has been shown to protect against various …

The deficiency of the enzyme glutaryl‐CoA dehydrogenase, known as glutaric acidemia type
I (GA‐I), leads to the accumulation of glutaric acid (GA) and glutarilcarnitine (C5DC) in the …