Orphanet: Iminoglycinuria

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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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Iminoglycinuria

ORPHA:42062

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