Iminoglycinuria

Iminoglycinuria
Imine, a functional group found in imino acids
Classification and external resources
Specialty	endocrinology
ICD-10	E72.0
ICD-9-CM	270.8
OMIM	242600
DiseasesDB	6720
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Iminoglycinuria, sometimes called familial iminoglycinuria, is an autosomal recessivedisorder of renal tubular transport affecting reabsorption of the amino acid glycine, and the imino acids proline and hydroxyproline. This results in excess urinary excretion of all three acids (-uria denotes "in the urine").

Iminoglycinuria is a rare and complex disorder, associated with a number of genetic mutations that cause defects in both renal and intestinal transport systems of glycine and imino acids.

Imino acids typically contain an imine functional group, instead of the amino group found in amino acids. Proline is considered and usually referred to as an amino acid, but unlike others, it has a secondary amine. This feature, unique to proline, identifies proline also as an imino acid. Hydroxyproline is another imino acid, made from the naturally occurring hydroxylation of proline.

Proline

Hydroxyproline

The primary characteristic of iminoglycinuria is the presence of glycine and imino acids in the urine. Otherwise, it is thought to be a relatively benign disorder, although symptoms associated with disruptions of proline and glycine metabolism caused by malabsorption may be present with iminoglycinuria. These include encephalopathy, mental retardation,deafness,blindness,kidney stones,hypertension and gyrate atrophy.

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