Iminoglycinuria (Q96044): Difference between revisions
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| description / pt-br | description / pt-br | ||
A iminoglicinúria é um transtorno metabólico resultante da reabsorção defeituosa de prolina, hidroxiprolina e glicinano tubulo renal. A prevalência é estimada em cerca de 1 em 15.000. O distúrbio é geralmente assintomático e identificado fortuitamente pela detecção de níveis aumentados de iminoácidos e glicina na urina. É transmitido como um traço autossômico recessivo. | |||
| description / en | description / en | ||
Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait. | |||
Revision as of 11:52, 16 August 2026
Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_664428532 |
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| English | Iminoglycinuria |
Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait. |
