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Increased serum and urine levels of hydroxyproline have also been demonstrated in Paget's disease. [10] Mass spectrometry analysis showed decreased amount of hydroxyproline post-translational modifications in non inflamed tissue from ulcerative colitis patients when compared to tissue from donors without the disease. [11]
Hyperprolinemia has an autosomal recessive pattern of inheritance. Mutations in the ALDH4A1 and PRODH genes cause hyperprolinemia. [1]Hyperprolinemia type I is caused by a mutation in the PRODH gene, which codes for the enzyme proline oxidase.
The normal concentration of 3-methylhistidine in the urine of healthy adult humans has been detected and quantified in a range of 3.63–69.27 micromoles per millimole (μmol/mmol) of creatinine, with most studies reporting the average urinary concentration between 15 and 20 μmol/mmol of creatinine. [1]
Reference ranges for urine tests are described below: Measurement Lower limit Upper limit Unit Urinary specific gravity: 1.003 [1] [2] 1.030 [1] [2] g/mL Urobilinogen:
Urinalysis, a portmanteau of the words urine and analysis, [1] is a panel of medical tests that includes physical (macroscopic) examination of the urine, chemical evaluation using urine test strips, and microscopic examination.
In urine cytology, collected urine is examined microscopically. One limitation, however, is the inability to definitively identify low-grade cancer cells and urine cytology is used mostly to identify high-grade tumors. [4] If the test detects atypical or cancerous cells, further tests may be recommended, such as cystoscopy and a CT scan.
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]
Hartnup disease (also known as "pellagra-like dermatosis" [1] and "Hartnup disorder" [2]) is an autosomal recessive [3] metabolic disorder affecting the absorption of nonpolar amino acids (particularly tryptophan that can be, in turn, converted into serotonin, melatonin, and niacin).