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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.

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Familial Iminoglycinuria.

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

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

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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.

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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.

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No specific precautions required for this condition.

Chesney RW: Iminoglycinuria, in Scriver CR, Beaudet AL, Sly WS, Valle D: The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York, McGraw-Hill, 1995, p 3643.

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