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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.
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 ...
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.
Diagnosis is confirmed by a blood gas. [3] Treatment is generally with oxygen therapy and methylene blue. [3] Other treatments may include vitamin C, exchange transfusion, and hyperbaric oxygen therapy. [3] Outcomes are generally good with treatment. [3] Methemoglobinemia is relatively uncommon, with most cases being acquired rather than ...
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 ...
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 ...
(According to the Cleveland Clinic, microcytic anemia happens when a person’s red blood cells are smaller than usual, which leads to the body not being able to carry as much oxygen.) The E!
Aldolase A deficiency is an autosomal recessive metabolic disorder resulting in a deficiency of the enzyme aldolase A; the enzyme is found predominantly in red blood cells and muscle tissue. The deficiency may lead to hemolytic anaemia as well as myopathy associated with exercise intolerance and rhabdomyolysis in some cases.