CSF lactate.

Lactate is produced from anaerobic glycolysis, which occurs in most tissues in the human body. Blood lactate is tested in most physiologically unwell patients in the Emergency Department and helps to guide treatment and prognosis. Cerebrospinal fluid (CSF) lactate, however, is not often measured.

Effects of ketosis in mitochondrial myopathy: potential benefits of a mitotoxic diet.

The field of mitochondrial medicine is rapidly transitioning from preclinical observation to clinical application. Translation of promising data obtained in mouse models is not always straight‐forward, however. Building on their own work showing that a ketogenic diet induces mitochondrial biogenesis and delays the onset of disease in the Deletor mouse, Ahola administered modified Atkins diet (mAD) to five patients with mitochondrial myopathy caused by mitochondrial DNA deletions (Ahola , 2016).

Rhabdomyolysis: a genetic perspective.

Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure. Apart from trauma, a wide range of causes have been reported including drug abuse and infections. Underlying genetic disorders are also a cause of RM and can often pose a diagnostic challenge, considering their marked heterogeneity and comparative rarity.