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Iminoglycinuria

Disease definition

A rare inborn error of metabolism characterized by elevated levels of imino acids (proline, hydroxyproline) and glycine in urine due to defective reabsorption in the kidney. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive.

ORPHA:42062

Classification level: Disorder
  • 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: -
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