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Hyperuricaemia or hyperuricemia is an abnormally high level of uric acid in the blood. In the pH conditions of body fluid , uric acid exists largely as urate, the ion form. [ 1 ] [ 2 ] Serum uric acid concentrations greater than 6 mg/dL for females, 7 mg/dL for males, and 5.5 mg/dL for youth (under 18 years old) are defined as hyperuricemia. [ 3 ]
Inactivation of the hepatic fructokinase results in asymptomatic fructosuria. [citation needed] Hereditary fructose intolerance (HFI) results in poor feeding, failure to thrive, chronic liver disease and chronic kidney disease, and death. HFI is caused by a deficiency of fructose 1,6-biphosphate aldolase in the liver, kidney cortex and small ...
Hyperuricosuria is a medical term referring to the presence of excessive amounts of uric acid in the urine.For men this is at a rate greater than 800 mg/day, and for women, 750 mg/day. [1]
Once the diagnosis is suspected, the multiplicity of clinical and laboratory features usually makes a strong circumstantial case. If hepatomegaly, fasting hypoglycemia, and poor growth are accompanied by lactic acidosis, hyperuricemia, hypertriglyceridemia, and enlarged kidneys by ultrasound, GSD I is the most likely diagnosis.
Underexcretion of uric acid by the kidney is the primary cause of hyperuricemia in about 90% of cases, while overproduction is the cause in less than 10%. [5] About 10% of people with hyperuricemia develop gout at some point in their lifetimes. [19] The risk, however, varies depending on the degree of hyperuricemia.
Hyperuricemia (serum uric acid concentration of >8 mg/dL) is often present but not reliable enough for diagnosis. Activity of the HGPRT enzyme in cells from any type of tissue (e.g., blood, cultured fibroblasts, or lymphoblasts) that is less than 1.5% of normal enzyme activity confirms the diagnosis of Lesch–Nyhan syndrome. Molecular genetic ...
Some fatty acid oxidation disorders show lactic acidosis, hypoketotic hypoglycaemia and hyperammonemia, while others are asymptomatic. [2] [41] [42] Differentiating between different types of metabolic myopathies can be difficult due to the similar symptoms of each type such as myoglobinuria and exercise intolerance. It has to be determined ...
Syndrome of inappropriate antidiuretic hormone secretion (SIADH), also known as the syndrome of inappropriate antidiuresis (SIAD), [2] is characterized by a physiologically inappropriate release of antidiuretic hormone (ADH) either from the posterior pituitary gland, or an ectopic non-pituitary source, such as an ADH-secreting tumor in the lung. [1]