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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 152 (1993), S. 56-59 
    ISSN: 1432-1076
    Keywords: Glycogen storage disease ; type I ; Dietary therapy ; Uncooked cornstarch ; Continuous glucose feedings ; Physical growth and development
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Long-term effects of cornstarch (CS) therapy on biochemical values and physical growth in children with type I glycogen storage disease (GSD I) were compared to those of children receiving continuous nocturnal nasogastric glucose feedings (CNG). Only patients who had received more than 5 years of dietary therapy (either CS or CNG) were evaluated. Six patients (five female, age 13.5 years±1.3, range 11.7–16.5 years) received CS (1.75–2.5 g/kg, four times daily) and seven patients (five female, age 9.6±2.5 years, range 7.3–14.8 years) received CNG. Blood glucose, lactate, cholesterol and triglyceride levels were not significantly different between the two methods of treatment. All patients maintained linear growth rates normal for their age. The standard deviation score of height after 6.7±1.6 years (range 5–9 years) of CS treatment was −1.29±0.59 and after 8.8±2.4 years (range 7–14 years) of CNG was −1.24±0.63. These values did not differ significantly from each other or from the target height, an estimate of genetic potential for height as determined from parental heights. With the exceptions of diarrhea, increased flatulence and excess weight gain, there were no adverse effects of CS after 9 years of treatment. Our data suggests that cornstarch is a simple, effective and safe therapy for GSD I.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Journal of inherited metabolic disease 13 (1990), S. 259-262 
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Journal of inherited metabolic disease 15 (1992), S. 869-881 
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In glycogen storage disease type III (glycogen debranching enzyme (DE) deficiency), the activities of serum alanine aminotransferase, aspartate aminotransferase and lactate dehydrogenase may be strikingly elevated during childhood but are low during adult life. To determine the pattern of the elevated serum enzyme activities in relationship to diet, the biochemical subtype and clinical symptoms, 13 patients with DE deficiency were studied. Activities of serum aspartate and alanine transaminases, lactate dehydrogenase, and alkaline phosphatase were markedly elevated during infancy. Continued elevation of enzyme activities during childhood appeared to be related to DE deficiency in liver, but unrelated to DE deficiency in muscle. Activity elevations correlated inconsistently with diet and poorly with childhood growth rate or the presence of hypoglycaemia. The serum enzyme activities declined around puberty concomitantly with a decrease in liver size. Although periportal fibrosis and micronodular cirrhosis indicated the presence of hepatocellular damage during childhood, the decline in serum enzyme activities with age and the absence of overt hepatic dysfunction suggest that the fibrotic process may not always progress.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-136X
    Keywords: Hibernator ; Acyltransferase ; Lipogenesis ; Brown adipose tissue ; Marmot, Marmota flaviventris
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Fatty acid metabolism and triacylglycerol synthesis are critical processes for the survival of hibernating mammals that undergo a prolonged fasting period. Fatty acid synthase, fatty-acid-CoA ligase, diacylglycerol acyltransferase, and monoacylglycerol acyltransferase activities were measured in liver and in white and brown adipose tissue, in order to determine whether enzymes of lipogenesis and triacylglycerol synthesis vary seasonally during hibernation in the yellow-bellied marmot (Marmota flaviventris). Compared with mid-winter hibernation, fatty acid synthase activity was higher in all three tissues during early spring when marmots emerged from hibernation and in mid-summer when they were feeding, consistent with the synthesis of fatty acids from the carbohydrate-rich summer diet. Fatty-acid-CoA ligase and diacylglycerol acyltransferase activities were highest in summer in white adipose tissue when triacylglycerol synthesis would be expected to be high; diacylglycerol acyltransferase activity was also high in brown adipose tissue during spring and summer. In liver, however, diacylglycerol acyltransferase specific activity was highest during hibernation, suggesting that triacylglycerol synthesis may be prominent in liver in winter. Monoacylglycerol acyltransferase activity, which may aid in the retention of essential fatty-acids, was 80-fold higher in liver than in white or brown adipose tissue, but did not vary seasonally. Its dependence on palmitoyl-CoA suggests that a divalent cation might play a role in enzyme activation. The high hepatic diacylglycerol acyltransferase activity during hibernation suggests that the metabolism of very low density lipoprotein may be important in the movement of adipose fatty acids to brown adipose tissue and muscle during the rewarming that occurs periodically during hibernation. These studies suggest that enzymes of lipid metabolism vary seasonally in the marmot, consistent with requirements of this hibernator for triacylglycerol synthesis and metabolism.
    Type of Medium: Electronic Resource
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