Search results
Results From The WOW.Com Content Network
Very long-chain acyl-coenzyme A dehydrogenase deficiency is a fatty-acid metabolism disorder which prevents the body from converting certain fats to energy, particularly during periods without food. [1] [2] [3] Those affected by this disorder have inadequate levels of an enzyme that breaks down a group of fats called very long-chain fatty acids.
Most individuals with G6PD deficiency are asymptomatic.When it induces hemolysis, the effect is usually short-lived. [5]Most people who develop symptoms are male, due to the X-linked pattern of inheritance, but female carriers can be affected due to unfavorable lyonization or skewed X-inactivation, where random inactivation of an X-chromosome in certain cells creates a population of G6PD ...
Isobutyryl-coenzyme A dehydrogenase deficiency is a rare metabolic disorder in which the body is unable to process certain amino acids properly. [1]People with this disorder have inadequate levels of an enzyme that helps break down the amino acid valine, resulting in a buildup of valine in the urine, a symptom called valinuria.
Patients must be monitored regularly for blood lactate levels, transaminase and plasma ketone levels. [18] There is some evidence that dichloroacetate reduces the inhibitory phosphorylation of pyruvate dehydrogenase complex and thereby activates any residual functioning complex. Resolution of lactic acidosis is observed in patients with E1 ...
Rh deficiency syndrome is a type of hemolytic anemia that involves erythrocytes whom membranes are deficient in Rh antigens. It is considered a rare condition. [56] Sickle-cell disease: Sickle cell disease is a group of inherited blood disorders, caused by a genetic abnormality in the oxygen-carrying protein haemoglobin found in red blood cells ...
Researchers of disorders such as schizophrenia are interested in studying this disorder, as patients with these specific diseases can have an increase in the amount of dopamine in their system and yet do not show other symptoms of DβH deficiency. Dopamine beta-hydroxylase deficiency is a rare form of dysautonomia.
NADPH deficiency can cause a dysfunction in glutathione peroxidase which is an enzyme that converts hydrogen peroxide (a reactive oxygen species) into water. G6PD ( glucose-6-phosphate dehydrogenase ) deficiency exacerbated by administration of oxidant drugs (e.g., primaquine , dapsone , quinidine ) can also result in Heinz bodies.
The most important measure taken for treatment of 6-phosphoglucanate dehydrogenase is prevention. Avoidance of chemical exposures to drugs and foods that have the potential to cause hemolysis. Although some foods and supplements have antioxidant properties, their use does not decrease the severity of G6PD deficiency.