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.

Telecanthus

Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.


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PMID (PMCID)