Biomedical subjects
Publications and source records attributed to V G Oberholzer.
3-Amino-2-piperidone, a delta-lactam of ornithine, has been detected in the urine of a number of patients with hyperornithinemia. The distinctive yellow colour formed with a ninhydrin-cadmium reagent should help in the detection of hyperornithinemia by urinary chromatography.
Citrullinaemia was diagnosed in an infant who died at age 8 days. The clinical picture was of the disease in its acute neonatal form. A sib has a blood citrulline of 100 times normal and about 10% of normal argininosuccinic acid synthetase activity in cultured fibroblasts. Clinically he is normal with an IQ of 94 on the Wechsler Intelligence Scale for Children.
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Increased urinary levels of N-carbamoyl-beta-alanine, and also, on occasions, of N-carbamoylaspartate, were observed in patients with ornithine carbamoyl-transferase (EC 2.1.3.3) deficiency, argininosuccinate synthetase (EC 6.3.4.5) deficiency and argininosuccinate lyase (EC 4.3.2.1)deficiency, but not in a patient with carbamoylphosphate synthase deficiency. The relevance of these findings to the diagnosis of urea cycle defects is discussed.
A column cation-exchange resin procedure for plasma ammonia was modified to require only 100 mul of plasma per determination. Mean analytical recovery of standard from resin (six samples) was 98% (range, 94-100%) as compared to a mean of 63% (range, 58-70) for nine samples when a batch cation-exchange procedure was used. Absorbance was proportional to sample concentration up to 800 mumol/liter. Analytical recovery of standard from plsma (six samples) was complete (mean, 103%; range, 90-113). Thirteen aliquots of a specimen of fresh plasma from a single adult individual gave a mean value of 20 mumol/liter (range, 11-26). The mean plasma venous ammonia concentration for 27 adults was 16 mumol/liter (range, 0-39), and for 15 newborns it was 60 (range, 34-102). Values for capillary plasma measured at the same time were higher, and we discuss possible explanations for this. Values are given for infants and children from one month to 14 years of age. Effects of storage time and temperature on plasma ammonia concentration are discussed.
Increased plasma and urine levels of pyroglutamic acid were found in 4 patients being fed the low-lactose food Nutramigen. Pyroglutamic acid was detected and estimated by a variety of methods, and the merits of the techniques used and their application in a screening programme are discussed.
A complete absence of plasma carnosinase activity was observed in a series of patients with proven urea cycle defects. This finding could not be explained by age of patients, low protein intake, or inhibition of the enzyme by glutamine or carbamyl phosphate.
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The plasma amino-acid levels in infants of low birth weight fed on expressed human milk and on a proprietary breast-milk substitute, S26, with a protein intake of not more than 4.5 g/kg/day were compared with those in infants fed on an evaporated milk formula whose protein intake ranged from 6.15 to 12.3 g/kg/day, as well as with normal infants on normal feeds and protein intake. In general, there was little difference between the levels in infants of low birth weight and in normal infants on the same protein intake. The five infants of low birth weight on high protein intake had generally higher levels of plasma amino-acids compared with the group on the lower protein intake, and in particular the levels of tyrosine, phenylalanine, methionine, and cystathionine could be extremely high. Apart from methionine these high levels may be the result both of a reduction in activity of the enzymes involved in the metabolism of these amino-acids, due to the immaturity of the infant, and of the increased stress of a high protein intake. In view of a possible long-term effect of abnormally high plasma amino-acid levels it is suggested that the protein intake of infants of low birth weight should not exceed 6 g/kg/day.
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