Ira K. Brandt

New syndrome of neonatal hypoglycemia. Association with visceromegaly, macroglossia, microcephaly and abnormal umbilicus.

SYMPTOMATIC hypoglycemia in the newborn infant occurs approximately once in 500 live births.1 Over 80 per cent of these infants are small for their gestational age.2 The occurrence of symptomatic h...

Type III glycogenosis: A family with an unusual tissue distribution of the enzyme lesion☆

Abstract A family is described in which type III glycogenosis has been documented in the mother and all three of her children. Growth failure, hepatomegaly, fasting hypoglycemia and acetonuria were present during infancy and early childhood, and were accompanied by minimal disability. By late childhood, all but hepatomegaly had disappeared. The glucose tolerance test was diabetic in pattern, however, and there was no response to the injection of glucagon whether the patients were in a fasting or in postprandial state. Galactose was readily converted to glucose. Tissue studies revealed glycogen accumulation in the liver, and the absence of dextrin-1,6-glucosidase activity in both liver and muscle. Glycogen concentrations in red blood cells were not significantly elevated and white blood cell preparations were not deficient in enzyme activity. It is concluded that blood studies cannot be relied upon to confirm the diagnosis of type III glycogenosis.

THE DEVELOPMENT OF THE HIPPURIC ACID-SYNTHESIZING SYSTEM IN THE RAT.

Abstract Homogenates of livers taken from late fetal and early newborn rats were able to couple benzoic acid to glycine only to a slight extent. The enzyme activity increased slowly with age until shortly before weaning, when a more rapid increase began and was maintained until approximately adult values were attained at 1 month. Attempts to induce an increase in enzyme activity by (1) injection of substrates and of closely related compounds, of cortisol and of triiodothyropropionic acid 5 hours before sacrifice, (2) adrenalectomy, and (3) feeding a diet high in PAB, were unsuccessful.

Transient granulocytopenia of the newborn associated with sepsis due to Shigella alkalescens and maternal leukocyte agglutinins: A case report

Summary A newborn infant with granulocytopenia and sepsis caused by Shigella alkalescens is presented. Eight months post partum the mothers serum was found to contain agglutinins against the neutrophils of both the baby and the father. It is concluded that the granulocytopenia was probably secondary to sepsis caused by Shigella alkalescens resulting from transplacental infection shortly preceding birth, or from direct maternal fecal contamination, and that sequestration of neutrophils by transplacentally acquired maternal leukoagglutinins may also have contributed to the granulocytopenia.

Phenylketonuria: evaluation of therapy and verification of diagnosis.

Twelve patients were studied who had been placed on a low-phenylalanine diet before 2 months of age because of hyperphenylalaninemia. The failure of tyrosine blood levels to rise significantly after a phenylalanine load was considered confirmation of the diagnosis of phenylketonuria. The height of each of the 12 patients was less than the fiftieth percentile and 3 were under the third percentile. The failure to thrive was correlated with a plasma phenylalanine level below 3 mg. per 100 ml. One child developed the phenylalanine deficiency syndrome.

Hepatolenticular degeneration: The comparative effectiveness of D-penicillamine, potassium sulfide, and diethyldithiocarbamate as decoppering agents

Copper balance studies were performed on three patients with hepatolenticular degeneration to assess the relative values of D-penicillamine, of potassium sulfide, and of diethyldithiocarbamate therapy. The first produced a pronounced negative balance, whereas the latter two were essentially ineffective.

Hepatolenticular degeneration: Observations on a case treated with d-penicillamine

Balance studies, performed on a child with hepatolenticular degeneration, revealed that d -penicillamine brought about a change from a positive to a markedly negative copper balance because of its cupriuuretic effect. He was then treated with this drug, with marked restriction of copper intake, and with the administration of potassium sulfide which to some extent prevents absorption of copper from the gut. This regimen resulted in appreciable improvement despite the fact that later studies revealed a diminution in the cupriuretic effect of d -penicillamine which necessitated an increase in dosage. D-penicillamine also increased the urinary excretion of magnesium and of calcium.

Changes in plasma growth hormone after a phenylalanine tolerance test in normal and phenylketonuric children

Growth hormone levels were evaluated in normal, heterozygous, and phenylketonuric subjects following an oral load of l-phenylalanine. Normal controls and heterozygous subjects responded with an increase in growth hormone levels at the third hour after ingestion of the amino acid. In contrast, the growth hormone levels did not increase significantly in the phenylketonuric children above the fasting values during the 6 hour period following the phenylalanine load.