TARUI DISEASE Meaning and
Definition
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Tarui disease, also known as glycogen storage disease type VII (GSDVII), is a rare genetic disorder characterized by a deficiency or dysfunction of the enzyme phosphofructokinase, which is responsible for breaking down a sugar molecule called glucose-1-phosphate into a simpler form known as fructose-6-phosphate. This enzyme is crucial for the normal function of glycolysis, the metabolic pathway that provides energy to cells and tissues. As a result of this enzyme defect, individuals with Tarui disease experience an impaired ability to produce energy from carbohydrate sources.
The symptoms of Tarui disease can vary depending on the severity of the enzyme deficiency. Common signs include recurrent muscle stiffness, muscle weakness, exercise intolerance, and muscle pain. These symptoms typically worsen during periods of physical activity or fasting. Additionally, affected individuals may also exhibit an enlarged liver (hepatomegaly) and hemolytic anemia, a condition characterized by the destruction of red blood cells.
Tarui disease is an autosomal recessive disorder, meaning that two copies of the defective gene, one inherited from each parent, are necessary to develop the condition. The exact prevalence of Tarui disease is unknown, but it is considered to be an extremely rare disorder. Diagnosis is typically confirmed through genetic testing, enzyme analysis, and a thorough evaluation of clinical findings. While there is currently no cure for Tarui disease, management is centered around symptom relief and prevention of complications, often involving a carefully monitored diet and exercise regimen.
Common Misspellings for TARUI DISEASE
- rarui disease
- farui disease
- garui disease
- yarui disease
- 6arui disease
- 5arui disease
- tzrui disease
- tsrui disease
- twrui disease
- tqrui disease
- taeui disease
- tadui disease
- tafui disease
- tatui disease
- ta5ui disease
- ta4ui disease
- taryi disease
- tarhi disease
- tarji disease
- tarii disease
Etymology of TARUI DISEASE
"Tarui disease" is named after the Japanese physician Seiichiro Tarui, who first described the condition in 1965. The official name of this disease is "Tarui's disease" or "Tarui's syndrome". Hence, the term "Tarui disease" is derived from Dr. Tarui's name.
Similar spelling words for TARUI DISEASE
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