Iminoglycinuria

Orpha code: 42062OMIM code: 242600

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.

Disease data
Classification

Disease

ORPHA code
42062
OMIM code
242600
ICD10 code
E72.0
ICD11 code
-

No additional description.

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