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Novel cystathionine mono-oxo acids, S-(3-oxo-3-carboxy-n-propyl) cysteine and S-(2-oxo-2-carboxyethyl) homocysteine, and cyclic amino acid, cystathionine ketimine, have been detected in the urine of a patient with cystathioninuria using liquid chromatography-mass spectrometry with an atmospheric pressure ionization interface system and an amino acid analyzer. To determine these cystathionine mono-oxo acids and cystathionine ketimine we took advantage of the selective absorbance at 380 nm of the phenylisothiocyanate-ketimine interaction product. The total concentrations of these compounds found in the urine samples of a cystathioninuric patient and six healthy subjects were respectively 3611.3 and 148.4 µg ± 35.9/g of creatinine. The cystathioninuric patient excreted 20 times more cystathionine mono-oxo acids in the urine than healthy subjects.Copyright 1993, 1999 Academic Press

A 3.5-year-old Japanese boy with a mild speech disturbance excreted a large amount of a-aminoadipic acid into the urine. The amino acid analysis using an amino acid analyser confirmed the presence of a-aminoadipic acid in both urine and plasma.

A 3.5-year-old Japanese boy with a mild speech disturbance excreted a large amount of a-aminoadipic acid into the urine. The amino acid analysis using an amino acid analyser confirmed the presence of a-aminoadipic acid in both urine and plasma. We detected a-aminoadipic acid in the hydrolysate of the effluent and washwater fraction through cation exchange resin. This suggested the presence of acetylated derivatives and we identifiedN-acetyl-a-aminoadipic acid using liquid chromatography-atmospheric pressure ionization mass spectrometry (LC-API-MS). The concentrations of a-aminoadipic acid andN-acetyl-a-aminoadipic acid in the urine of a patient with a-aminoadipic aciduria were 376.9 nmol/mg creatinine and 18.1 nmol/mg creatinine, respectively. We also detected a-ketoadipic acid in the urine of this patient using LC-API-MS.

In order to determine the role of growth hormone (GH) on immunological functions, several kinds of lymphocyte subsets and killer cell activities including natural killer (NK), interferone-augmented NK, and lymphokine activated killer (LAK) celles were studied in 12 children and 12 adults with GH deficiency. The results were compared with age-matched normal controls. Adult patients had been previously treated with hGH in childhood. In child patients, NK and LAK activities were significantly low before hGH therapy, but they increased to normal levels after one year of hGH therapy. However, a significant low percentage of Leu 7+cells was observed both before and after hGH therapy in 11 children. In adult patients, NK activities were normal, but interferon-augmented NK activities and LAK activities were low. However, LAK activities increased after one month of hGH therapy. These results suggest that in children GH deficiency may cause the defective killer cell activities, and that hGH therapy may recover the function of killer cells, though the number of killer cells remained at a low level. In adult patients, short term hGH therapy resulted in normalization of LAK activities but did not resulted in normalization of other cellular immunological abnormalities. Therefore, GH is thought to be indispensable to develop and maintain some killer cell activities.