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  • 1995-1999  (2)
  • 1980-1984
  • Cerebrovascular disease  (1)
  • Heart defects  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 156 (1997), S. 864-869 
    ISSN: 1432-1076
    Keywords: Key words Carnitine ; Child ; Head injury ; Heart defects ; Sepsis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In order to characterize the role of carnitine during metabolic stress, we prospectively determined carnitine profiles in plasma and urine on admission, days 2, 5, 10 and 15, among 28 critically ill children free of any known conditions associated with secondary carnitine deficiency. More than 25% of plasma and 50% of urinary carnitine measurements were abnormal; 96% (27/28) of patients displayed on at least one occasion an abnormal [〈−2 SD or 〉+2 SD] carnitine value in plasma. Three children had extremely low [〈10 μmol/l] free carnitine (FC) levels in plasma. Plasma esterified and FC levels on admission were not related to the risk of mortality [PRISM score], to muscle lysis [CK values], and to the caloric intake. Levels of FC and esterified carnitine in plasma were unrelated to those measured in urine. Conclusion Abnormal plasma and urine carnitine measurements are frequently found in critically ill children; the biological significance of these perturbations remains unclear. Caution must be exercised before concluding that an abnormal carnitine value is indicative of an underlying hereditary metabolic disorder in this population.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-198X
    Keywords: Key words Uremia ; Homocysteine ; Cerebrovascular disease ; Thermolabile methylenetetrahydrofolate reductase variant ; Cystinosis ; Folic acid ; Vitamin B12
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  We report a 13-year-old girl with nephropathic cystinosis on chronic peritoneal dialysis who presented with two episodes of stroke. Laboratory evaluation showed severe hyperhomocysteinemia (108 µmol/l). Further testing revealed that she was homozygous for the thermolabile variant of the methylenetetrahydrofolate reductase (MTHFR) gene. Treatment with folic acid and vitamin B12 lowered plasma homocysteine to less than 20 µmol/l. No further episodes of stroke occurred over a follow-up of 12 months. Homocysteine levels should be measured in patients with chronic renal failure, since simple and safe treatment with folic acid and vitamin B12 is effective in lowering the plasma homocysteine level in patients with the thermolabile MTHFR allele.
    Type of Medium: Electronic Resource
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