Iminoglycinuria
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Iminoglycinuria is an autosomal recessive[4] disorder of renal tubular transport affecting reabsorption of the amino acid glycine, and the imino acids proline and hydroxyproline.[4][5] This results in excess urinary excretion of all three acids (-uria denotes "in the urine").[6]
Iminoglycinuria | |
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Other names | Familial iminoglycinuria[1][2][3] |
Imine, a functional group found in imino acids | |
Specialty | Endocrinology |
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.[4][7][8][9]
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,[10][11] but unlike others, it has a secondary amine. This feature, unique to proline, identifies proline also as an imino acid.[12][13] Hydroxyproline is another imino acid, made from the naturally occurring hydroxylation of proline.[12]