Iminoglycinuria

Orpha code: 42062OMIM code: 242600

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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