[Hyperglycinemia in clinical-laboratory practice]. / Le iperglicinemie nella pratica clinico-laboratoristica.

Hyperglycinemia is a non rarely observed biochemical finding which can be caused by a primary defect of the glycine cleavage system (nonketotic hyperglycinemia) or by an enzymatic block due to toxic metabolites (ketotic hyperglycinemia in organic acidurias) or to specific drugs (such as sodium valproate). The Authors report their clinical and laboratory experience in the diagnosis of different forms of hyperglycinemia. Three patients with nonketotic hyperglycinemia (1 patient with transient neonatal form, 1 with the classic neonatal form, and 1 with late onset form), 6 patients with ketotic hyperglycinemia (1 propionic acidemia, 5 methylmalonic acidurias), and 8 patients with hyperglycinemia during sodium valproate treatment are described. In this study the diagnostic iter and the importance of a precise diagnosis of the hyperglycinemia for the appropriate treatment are discussed.

[Extreme degree familial hypobetalipoproteinemia caused by hypothetic double heterozygosity in a subject with severe mental deficiency]. / Ipobetalipoproteinemia familiare di grado estremo da ipotetica doppia eterozigosi, in soggetto con grave deficienza mentale.

We described the case of an adult male patient, seriously mentally deficient, hospitalised in Psychiatric Hospital for a period of many years, suffering from a familial hypobetalipoproteinemia with extremely low levels of plasmatic betalipoproteins. The patient has been followed and tested several times over a period of six years. Numerous members of his family, which is part of a restricted ethnic nucleus in a locality (Iolo) of the Comune of Prato in the Provincia of Florence, were examined and tested too. Consanguinity between his parents is not demonstrable. The diagnosis of homozygous hypobetalipoproteinemia is discarded, but it does not seem that the heterozygous one is to be accepted as weel. On the ground of the existence of two syndromes which are quite unlike each other, but both explainable as form of familial heterozygous hypobetalipoproteinemia, one of them present in his father, the other one in his mother and in the maternal relatives as in the patient's brother respectively, a hypothesis of a double heterozygosis could be formulated. Extant is the support of the recent literature data, depending on them the possibility of making the hypothesis of a multiplicity of the genes regulating the apolipoprotein B synthesis. We do not exclude that the peculiarity of the event of a double heterozygosis can also be directly responsible of the patient's serious mental deficiency, being at the same time more supportable the hypothesis of a encephalopathy in his early childhood.

[Contribution of the laboratory to identification of drug addicts in psychiatric practice]. / Contributo del laboratorio per la identificazione di tossicomani nella pratica psichiatrica.

The AA. describe a thin-layer chromatographic method in which two elution systems are used in order to identify some drugs of addiction previously extracted from urines belonging to patients suspected to be addicts. They also studied the possible interferences due to drugs, particularly to psychotropic drugs, in psychiatric patients. The AA. noticed enough validity in identifying such drugs of addiction and a frequent possibility to exclude doubts derived from interfering substances. Some interferences seem to indicate the necessity of further careful studies.