Saccharopinuria
Saccharopinuria
Saccharopinuria (pronounced: sak-uh-roh-pin-yoo-ree-uh) is a rare metabolic disorder characterized by the accumulation of saccharopine, a lysine degradation intermediate, in the urine.
Etymology
The term "Saccharopinuria" is derived from the words "saccharopine", which refers to the compound that accumulates in the body due to this disorder, and "uria", a suffix used in medical terminology to denote a condition involving urine.
Definition
Saccharopinuria is a condition that falls under the category of amino acid disorders. It is caused by a deficiency in the enzyme saccharopine dehydrogenase, which is involved in the metabolic pathway of the amino acid lysine. This deficiency leads to an accumulation of saccharopine in the urine, hence the name of the condition.
Symptoms
The symptoms of Saccharopinuria can vary greatly among individuals. Some people may be asymptomatic, while others may experience symptoms such as developmental delay, intellectual disability, seizures, and muscle weakness.
Diagnosis
Diagnosis of Saccharopinuria is typically made through biochemical genetic testing, which involves analyzing the levels of saccharopine in the urine.
Treatment
Treatment for Saccharopinuria is primarily supportive and may include dietary management to limit the intake of lysine, as well as medications to manage symptoms.
Related Terms
External links
- Medical encyclopedia article on Saccharopinuria
- Wikipedia's article - Saccharopinuria
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