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The disease was formerly known as myoadenylate deaminase deficiency (MADD). In virtually all cases, the deficiency has been caused by an SNP mutation, known as rs17602729 or C34T . While it was initially regarded as a recessive (or purely homozygous ) disorder, some researchers have reported the existence of similarly deleterious effects from ...
Myeloperoxidase deficiency is a disorder featuring lack in either the quantity or the function of myeloperoxidase–an iron-containing protein expressed primarily in neutrophil granules. [ 1 ] [ 2 ] [ 3 ] There are two types of myeloperoxidase deficiency: primary/inherited and secondary/acquired. [ 4 ]
Hypochromic anemia may be caused by vitamin B6 deficiency from a low iron intake, diminished iron absorption, or excessive iron loss. It can also be caused by infections (e.g. hookworms) or other diseases (i.e. anemia of chronic disease), therapeutic drugs, copper toxicity, and lead poisoning.
Blood protein Normal level % Function Albumins: 3.5–5.0 g/dl: 55%: create and maintain osmotic pressure; transport insoluble molecules Globulins: 2.0–2.5 g/dl: 38%: participate in immune system: Fibrinogen: 0.2–0.45 g/dl: 7%: Blood coagulation: Regulatory proteins <1%: Regulation of gene expression Clotting factors <1%: Conversion of ...
Mass concentration (g/dL or g/L) is the most common measurement unit in the United States. Is usually given with dL (decilitres) as the denominator in the United States, and usually with L (litres) in, for example, Sweden. [citation needed]
The hematocrit (/ h ɪ ˈ m æ t ə k r ɪ t /) (Ht or HCT), also known by several other names, is the volume percentage (vol%) of red blood cells (RBCs) in blood, [1] [2] measured as part of a blood test. [3] The measurement depends on the number and size of red blood cells. [3] It is normally 40.7–50.3% for males and 36.1–44.3% for ...
Deficiency of magnesium can cause tiredness, generalized weakness, muscle cramps, abnormal heart rhythms, increased irritability of the nervous system with tremors, paresthesias, palpitations, low potassium levels in the blood, hypoparathyroidism which might result in low calcium levels in the blood, chondrocalcinosis, spasticity and tetany, migraines, epileptic seizures, [7] basal ganglia ...
The low protein theory for the pathogenesis of kwashiorkor has been used to teach that capillary exchange between the lymphatic system and circulating blood is impaired by a reduced oncotic (i.e. colloid osmotic pressure, COP) in the blood, as a consequence of inadequate protein intake, so that the hydrostatic pressure gradient, which favors ...