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Iminoglycinuria

Disease definition

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.

ORPHA:42062

  • Synonym(s): -
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E72.0
  • OMIM: 242600
  • UMLS: C0268654
  • MeSH: C536285
  • GARD: 8424
  • MedDRA: -

Additional information

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