Iminoglycinuria
Iminoglycinuria
Iminoglycinuria (pronounced as im-ee-noh-gly-sin-yoo-ree-uh) is a rare inherited metabolic disorder characterized by the excessive excretion of certain amino acids in the urine.
Etymology
The term "Iminoglycinuria" is derived from the words "imino," referring to the imino acids, and "glycinuria," which refers to the presence of the amino acid glycine in the urine.
Definition
Iminoglycinuria is a benign condition that occurs due to a defect in the renal tubules, which are responsible for reabsorbing certain amino acids, including proline, hydroxyproline, and glycine, back into the bloodstream. As a result, these amino acids are excreted in the urine in abnormally high amounts.
Symptoms
Most individuals with iminoglycinuria do not exhibit any symptoms. The condition is usually discovered during routine urine tests or newborn screening tests.
Diagnosis
The diagnosis of iminoglycinuria is typically made through a urine test that measures the levels of amino acids. High levels of proline, hydroxyproline, and glycine in the urine are indicative of the condition.
Treatment
As iminoglycinuria is a benign condition, no specific treatment is required. Individuals with the condition are typically advised to maintain a healthy diet and lifestyle.
Related Terms
- Amino acids
- Glycine
- Proline
- Hydroxyproline
- Renal tubules
- Metabolic disorder
- Urine test
- Newborn screening
External links
- Medical encyclopedia article on Iminoglycinuria
- Wikipedia's article - Iminoglycinuria
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