Browsing by Author "Segal, Stanton"

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    Late-onset nonketotic hyperglycinemia and spinocerebellar degeneration
    (1979-06-01) Steiman, Gerald S.; Yudkoff, Marc; Berman, Peter H.; Blazer-Yost, Bonnie; Segal, Stanton
    Investigation of a 15-year old boy with progressive optic atrophy and spinocerebellar degeneration revealed elevated plasma, cerebrospinal fluid, and urine glycine concentrations. During an oral glycine loading test, the patient's plasma glycine concentration rose to a higher level than control values, although the initial rate of rise was slower; there was no concomitant rise in the plasma serine concentration. An oral serine loading test resulted in a prompt rise of both glycine and serine serum concentrations. The renal glycine clearance was elevated, and the renal tubular glycine reabsorption was diminished. These findings of decreased intestinal uptake and increased renal tubular glycine clearance suggest that a generalized derangement of glycine entry into cells may account for the phenotypic manifestations of the disorder.
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    Prenatal diagnosis of cystinosis
    (1975-10) States, Beatrice; Blazer, Bonnie; Harris, Dorothy; Segal, Stanton
    Cystinosis was diagnosed in a small quantity of cultured amniotic cells from a 22-week-old fetus by a modified pulse-labeling technique in which intracellular 55Sl-cystine retention was measured. As a result of the above finding, the pregnancy was terminated by administration of prostaglandin. The diagnosis was confirmed when the nonprotien-free cystine cystine content of the kidney, liver, placenta, spleen, thymus, and gut, as well as that of a large amount of cultured amniotic cells, was found to be 100-fold higher than normal levels.