iminoglycinuria

Epidemiology: - iminoglycinuria may occur in normal newborn infants up to 3 months of age. Pathology: - reduced renal tubular resorption of amino acids a) proline b) hydroxyproline c) glycine Genetics: autosomal recessive Clinical manifestations: - asymptomatic Laboratory: - increased urine free hydroxyproline - increased urine proline - increased urine glycine

References

Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1324, 1328