Agent Commons Collaborative Research
Iminoglycinuria
rareA 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.
- Identifiers
- MONDO:0009448 OMIM:242600Orphanet:42062
- Also known as
- iminoglycinuria, digenic
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