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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.
List of medical symptoms. Medical symptoms refer to the manifestations or indications of a disease or condition, perceived and complained about by the patient. [1] [2] Patients observe these symptoms and seek medical advice from healthcare professionals.
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 ...
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 .
This category reflects the organization of International Statistical Classification of Diseases and Related Health Problems, 10th Revision. Generally, diseases outlined within the ICD-10 codes R70-R79 within Chapter XVIII: Symptoms, signs and abnormal clinical and laboratory findings should be included in this category.
High turnover of tumor cells leads to spill of potassium into the blood. Symptoms usually do not manifest until levels are high (> 6.5 mmol/L) [normal 3.5–5.0 mmol/L] and they include [8] palpitations, cardiac conduction abnormalities, and arrhythmias (can be fatal) muscle weakness or paralysis; Hyperphosphatemia.
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).
Reproductive symptoms in men may include reduced free testosterone (due to the elevation of testosterone-estrogen binding globulin level), [4] diminished libido, erectile dysfunction and (reversible) impaired sperm production with lower mean sperm density, a high incidence of sperm abnormalities, and reduced mobility of the sperm cells.