Iminoglycinuria

Benign inborn error of metabolism caused by a defect in renal tubular amino acid transport resulting in abnormal urinary excretion of glycine, proline, and hydroxyproline.

Familial Iminoglycinuria.

Homozygotes: 1:15,000 live births; heterozygotes: 2:100 in the general population.

Usually autosomal recessive, heterozygotes may be “hyperglycinuric” (incomplete recessive), or silent (completely recessive).

Benign condition in which glycine and the imino acids proline and hydroxyproline have a decreased renal tubular reabsorption. Results from a specific inborn error of metabolism involving the common membrane carrier of these amino acids in the renal tubule.

Individuals with familial iminoglycinuria are asymptomatic. Excessive urinary proline, hydroxyproline, and glycine are normal findings in the first 6 months of life. In iminoglycinuria, urinary glycine excretion exceeds 150 mg in 24 hours, or endogenous renal clearance rate exceeds 8.6 ml/min/1.73 m2.

No specific precautions required for this condition.