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Signs and symptoms of a biotinidase deficiency (BTD) can appear several days after birth. These include seizures, hypotonia and muscle/limb weakness, ataxia, paresis, hearing loss, optic atrophy, skin rashes (including seborrheic dermatitis and psoriasis), and alopecia.
Abnormalities in the electrical activity of the heart are common in DM1, manifesting as arrhythmias or conduction blocks. [2] Sometimes, dilated cardiomyopathy occurs. [2] Symptoms onset any time from birth to adulthood. [5] The earlier the disease onset, the greater the variety of possible signs and symptoms.
Titin [5] (/ ˈ t aɪ t ɪ n /; also called connectin) is a protein that in humans is encoded by the TTN gene. [ 6 ] [ 7 ] The protein, which is over 1 μm in length, [ 8 ] functions as a molecular spring that is responsible for the passive elasticity of muscle .
T cell deficiency is a deficiency of T cells, caused by decreased function of individual T cells, it causes an immunodeficiency of cell-mediated immunity. [1] T cells normal function is to help with the human body's immunity, they are one of the two primary types of lymphocytes (the other being B cells).
Hemolytic anemia (also known as haemolytic anaemia) is an anemia due to hemolysis, the abnormal breakdown of red blood cells. A number of different mediating factors can cause this condition; either from within the blood cell itself (intrinsic factors) or outside of the cell (extrinsic factors). [39] Congenital hemolytic anemia: Fanconi anemia ...
Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the person's red blood cells are elliptical rather than the typical biconcave disc shape. Such morphologically distinctive erythrocytes are sometimes referred to as elliptocytes or ovalocytes.
Congenital afibrinogenemia is defined as a lack of fibrinogen in the blood, clinically <20 mg/deciliter of plasma. The frequency of this disorder is estimated at between 0.5 and 2 per million. [ 2 ] Within the United States, afibrinogenemia accounts for 24% of all inherited abnormalities of fibrinogen, while hypofibrinogenemia and ...
Congenital hypofibrinogenemia, an inherited disorder in which blood may not clot normally due to reduced levels of fibrinogen; the disorder may cause abnormal bleeding and thrombosis. [ 1 ] Fibrinogen storage disease , a form of congenital hypofibrinogenemia in which specific hereditary mutations in fibrinogen cause it to accumulate in, and ...