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This is a report of the neonatal form of nonketotic hyperglycinemia with rapid progressing neurological symptoms, respiratory distress and seizures. The EEG pattern is characteristic, the ratio of cerebrospinal fluid to plasma glycine abnormally high. The result of cranial computerized tomography demonstrates also in our patient that nonketotic hyperglycinemia joins a growing list of inborn errors of metabolism associated with brain malformations. The consanguinity of parents supports the known autosomal recessive form of inheritance.

Trocar resection is superior to Iglesias' backwash resection. The main criteria on which this assessment is based are the larger operative specimen obtained, the shorter duration of the operation, and the much smaller intraoperative infiltration volume. This last was determined using a glycine irrigation solution, by measuring the increase in glycine in the serum by means of column chromatography. This showed that the intravesical irrigation pressure determines the absorption volume after opening of the venous sinus, while the duration of the resection and the volume of irrigation solution employed perioperatively are of less importance. In the case of alcohol-based irrigation solutions these results can be confirmed by measuring the "standby" alcohol in the respiratory air.

Free amino acids were determined quantitatively in serum from the fasting blood of healthy children from families with patients with endemic (Balkan) nephropathy. A group of healthy children of the same age served as controls. Compared with the boys from healthy families the healthy boys from families with patients of endemic (Balkan) nephropathy had statistically significantly higher concentrations of the following amino acids: alanin, citrulline, isoleucine, leucine, ornithine, phenylalanine, proline and serine. The healthy girls from families with patients with endemic (Balkan) nephropathy had statistically significantly higher concentrations of citrulline, cystine, glycine, isoleucine, methionine, ornithine, phenylalanine, proline and serine than girls in the control group.

Blood-borne free amino acids of 100 mothers were tested immediately after birth. Fifty of the probands had diabetes, while the other 50 were metabolically intact. Amino acid imbalance was recorded by means of multidimensional variance analysis from the diabetics and found to have been largely associated with glutamic acid threonine, alanine, glycine-serine, and glutamine.--A formula, derived from the aforementioned relevant amino acid concentrations, is given in this paper together with a nomogram (which might be used instead of the formula) for determination of diabetes-caused alterations in the amino acid spectrum

Little information is available regarding the amino acid exchange by human tumors. To characterize this exchange in vivo, 21 patients with resectable colorectal carcinomas were studied during curative operations. Concerning the amino acid uptake and release by peripheral tissues, 20 non-cancer patients served as controls. Both groups of subjects were well-nourished, as indicated by anthropometric and biochemical variables. In the cancer patients, we cannulated a peripheral artery and vein as well as a central tumor-draining vein and the portal vein. Plasma concentrations and concentration differences were determined in mumol/l and in percentages of the total amino acid amounts. Peripheral glutamate uptake per liter plasma was reduced in the cancer patients (p = 0.02). In these patients, the central tumor-draining vein contained less glutamine (p = 0.002) and more glutamate (p = 0.002) than the peripheral vein. Glutamine uptake by the tumor occurred more often than glutamine release, while glutamate had a negative balance across the tumor in all but three cases. The qualitative differences between the peripheral tissues and the tumors with respect to glutamine and glutamate exchange reached high levels of significance (p = 0.002 for both of the amino acids). In addition, the tumors released more glycine, ornithine, and tyrosine than the periphery. As to glutamine and glutamate metabolism, there was a significant difference between the tumors and the portal-drained organs (p greater than or equal to 0.05). The discussion of the results emphasizes the contributions made by the periphery and the tumor to the plasma amino pattern. The role of glutamine as a potential high importance energy source for neoplastic tissues is delineated.

The tendency towards metabolic acidosis developing during simple infections lead to the detection of hyperglycinemia which was shown to be caused by the rare inborn error of metabolism, which was shown to be a methylmalonic acidemia, in identical twins. Under a protein restricted diet and vitamin-B12-injections once a week, all clinical symptoms disappeared so that vitamin-B12-dependency became evident. Under this therapeutic regimen methylmalonic aciduria was well under control.

In vivo synthesis of apolipoprotein B 100 (ApoB) was recently determined in man using stable isotopes. With this procedure we analyzed (1) the effect of fasting on synthesis of ApoB from very low density lipoprotein (VLDL) and (2) tracer enrichment in low density lipoprotein (LDL). After a 36-hour fasting period and in the post-absorptive state 4 healthy subjects were given a priming dose (8.7 mumol/kg) of 15N glycine followed by a constant infusion (10 mumol/kg/h for 8 h) to achieve 5% tracer enrichment in the plasma pool of glycine. The K-values, i.e. fractional synthetic rates/hr of ApoB from VLDL were 0.53 +/- 0.26 vs. 0.43 +/- 0.16 (p greater than 0.05). Tracer enrichment in ApoB from LDL at the end of the infusions was 0.19% vs. 1.46% in ApoB from VLDL. The results indicate that (1) in young healthy postabsorptive individuals about 40% of ApoB from VLDL in plasma is synthesized per hour, (2) fasting does not materially affect fractional ApoB synthesis and (3) at 5% 15N enrichment in plasma glycine, tracer enrichment in ApoB from LDL is at the lower limit of detection for the procedure employed.

We report on a newborn with peracute glycine encephalopathy. The child exhibited poor feeding, incipient respiratory failure and increasing muscular hypotonia from the first few days of life onwards and was admitted to hospital at six weeks due to regression of the symptoms. Following respiratory arrest the child had to be placed on controlled ventilation and died at the age of four months in spite of therapeutic measures. Previous papers on this rare disease have described elevated CSF glycine levels, EEG patterns, CT scan and acoustic and visual evoked potentials. We have supplemented these for the first time by somatosensory evoked potentials. The following is an account of the clinical course and the therapy given.

Tests for HL-A, W 27 were positive in eight of twelve patients with ankylosing spondylitis. The four negative cases, among them three members of the same family, had a different antigen pattern. Also positive were two cases with Reiter's disease. Semi-quantitative determination of serum levels of aminoacids in this group gave an increased alanine concentration in all but two instances. Leucine and valine levels were also raised, but less characteristically than alanine. These immunogenetic studies enrich diagnostic possibilities in clinical medicine, in addition to suggesting a possible common aetiology and(or) pathogenesis of Reiterś disease and ankylosing spondylitis. The significance of quantitative amino-acid modifications is not clear.