Vitamin-responsive genetic disease

Inborn errors of metabolism. Vitamin-responsive genetic disease.

The several ways in which vitamin administration may bring about a biochemical response in genetic abnormalities have been discussed. Two major interrelated lessons emerge from what we now know about vitamin-responsive genetic disease. First, it is possible to enhance metabolite flow through partially deficient reactions by suitable manipulation of the environment in which a fixed amount of enz...

Neonatal vitamin-responsive epileptic encephalopathies.

The treatment of neonatal seizures generally relies on the use of one or more anticonvulsant medications along with evaluation and management of any underlying etiology. In some circumstances, neonatal seizures are refractory to therapy and result in poor outcomes, including death. Certain rare vitamin- responsive inborn errors of metabolism may present as neonatal encephalopathy with anticonvu...

Vitamin-Responsive Epileptic Encephalopathies in Children

Untreated epileptic encephalopathies in children may potentially have disastrous outcomes. Treatment with antiepileptic drugs (AEDs) often may not control the seizures, and even if they do, this measure is only symptomatic and not specific. It is especially valuable to identify potential underlying conditions that have specific treatments. Only a few conditions have definitive treatments that c...

Vitamin deficiencies in chronic kidney disease

Genetic Mutations that Cause Coronary Artery Disease