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  • 1
    Electronic Resource
    Electronic Resource
    Deficiency of plasmalogens in the cerebro-hepato-renal (Zellweger) syndrome (1984)
    Springer
    European journal of pediatrics 142 (1984), S. 10-15 
    Details
    ISSN: 1432-1076
    Keywords: Cerebro-hepato-renal syndrome ; Plasmalogens ; Peroxisomes ; Zellweger syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We have analyzed the phospholipid composition of various organs of patients with the cerebro-hepato-renal (Zellweger) syndrome. The phospholipid composition of tissues from controls and patients was very similar except for their plasmalogen contents. In controls about 50% of the phosphatidylethanolamine fraction of brain, heart, kidney and skeletal muscle and about 10% of that fraction in control liver tissue was found to consist of plasmalogen. In control heart muscle, but not in other control tissues about 25% of the phosphatidylcholine fraction consist of plasmalogens. In contrast, plasmalogens were nearly absent in the corresponding tissues of Zellweger patients. The amount of phosphatidylethanolamine plasmalogens in both erythrocytes and fibroblasts of Zellweger patients is lowered significantly compared to control erythrocytes and control fibroblasts respectively, although this reduction is not as dramatic as in brain, heart, kidney, skeletal muscle and liver of patients. Phosphatidylcholine-plasmalogens are only present in low amounts in both controls, heterozygotes and patients. In recent years considerable evidence has accumulated to show that peroxisomes are involved in cellular lipid metabolism. Notably, the key enzymes of ether lipid (plasmalogen) biosynthesis in rodents were recently found to be located in peroxisomes. Since electronmicroscopic studies have shown that peroxisomes are absent in liver and kidney of patients with the cerebro-hepato-renal syndrome, our results suggest that an inability to integrate these key enzymes in a functional peroxisome leads to a severe disturbance in plasmalogen biosynthesis. We propose that the multiple clinical and biochemical defects in Zellweger patients are secondary to a deficiency in peroxisomal function.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442582
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  • 2
    Electronic Resource
    Electronic Resource
    Clinical recognition of patients affected by a peroxisomal disorder: A retrospective study in 40 patients (1992)
    Springer
    European journal of pediatrics 151 (1992), S. 117-120 
    Details
    ISSN: 1432-1076
    Keywords: Peroxisomal disorder ; Zellweger syndrome ; Peroxisomes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Peroxisomal disorders are genetic diseases in which an impairment in one or more peroxisomal function(s) causes clinical and multiple biochemical abnormalities. Early recognition of the major peroxisomal disorders in which functional peroxisomes are virtually absent, leading to a generalised impairment of peroxisomal functions, is of utmost importance, as this will enable the prenatal diagnosis of these severe diseases in future pregnancies. Unfortunately, clinical recognition of these disorders can be difficult because of the aspecific and varying phenotypic presentation. We analysed the clinical characteristics in 40 patients suspected of having a peroxisomal disorder to identify specific clinical criteria for diagnosis. From this study we conclude that the combined presence of at least three major clinical characteristics (present in 〉75% of the affected patients, including psychomotor retardation, hypotonia, impaired hearing, low/broad nasal bridge, abnormal ERG, hepatomegaly) and one or more minor characteristics (present in 50%–75% of the patients, like large fontanelles, shallow orbital ridges, epicanthus, anteverted nostrils, retinitis pigmentosa) warrants biochemical investigation of peroxisomal functions. Further prospective investigations will have to be done to evaluate these criteria.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01958955
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  • 3
    Electronic Resource
    Electronic Resource
    Physical adaptation of children to life at high altitude (1995)
    Springer
    European journal of pediatrics 154 (1995), S. 263-272 
    Details
    ISSN: 1432-1076
    Keywords: Hypoxia ; Altitude ; Pulmonary hypertension ; Pulmonary oedema ; Childhood growth
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Children permanently exposed to hypoxia at altitudes of 〉3000 m above sea level show a phenotypical form of adaptation. Under these environmental conditions, oxygen uptake in the lungs is enhanced by increases in ventilation, lung compliance, and pulmonary diffusion. Lung and thorax volumes in children growing up at high altitude are increased. The haemoglobin concentration in highlanders is evevated. With respect to the decreased arterial oxygen tension at high altitude, this seems a useful adaptation. Blood viscosity also increases as a result of the increase in red blood cell concentrations however, and this has potentially negative effects on the microcirculation in the tissues. The decreased partial pressure of oxygen in the lungs of highland children is associated with a higher pulmonary artery pressure. Pulmonary hypertension, high altitude pulmonary oedema, and chronic mountain sickness form part of the pathophysiology afflicting highland dwellers. Birth weight at high altitude is decreased. Decreased postnatal growth has been widely reported in populations at high altitude, particularly in early studies from the Andes. Recent studies taking into account the effects of socio-economic deprivation, suggest that long-term exposure to altitudes of 2500–3900 m is associated with a moderate reduction in linear growth in children.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957359
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Physical adaptation of children to life at high altitude (1995)
    Springer
    European journal of pediatrics 154 (1995), S. 263-272 
    Details
    ISSN: 1432-1076
    Keywords: Key words Hypoxia ; Altitude ; Pulmonary hypertension ; Pulmonary ; oedema ; Childhood growth
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Children permanently exposed to hypoxia at altitudes of 〉 3000 m above sea level show a phenotypical form of adaptation. Under these environmental conditions, oxygen uptake in the lungs is enhanced by increases in ventilation, lung compliance, and pulmonary diffusion. Lung and thorax volumes in children growing up at high altitude are increased. The haemoglobin concentration in highlanders is elevated. With respect to the decreased arterial oxygen tension at high altitude, this seems a useful adaptation. Blood viscosity also increases as a result of the increase in red blood cell concentrations however, and this has potentially negative effects on the microcirculation in the tissues. The decreased partial pressure of oxygen in the lungs of highland children is associated with a higher pulmonary artery pressure. Pulmonary hypertension, high altitude pulmonary oedema, and chronic mountain sickness form part of the pathophysiology afflicting highland dwellers. Birth weight at high altitude is decreased. Decreased postnatal growth has been widely reported in populations at high altitude, particularly in early studies from the Andes. Recent studies taking into account the effects of socio-economic deprivation, suggest that long-term exposure to altitudes of 2500–3900 m is associated with a moderate reduction in linear growth in children.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957359
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    Paper (German National Licenses)
    Fulltext
  • 5
    Electronic Resource
    Electronic Resource
    A milder variant of Zellweger syndrome (1985)
    Springer
    European journal of pediatrics 144 (1985), S. 338-342 
    Details
    ISSN: 1432-1076
    Keywords: Zellweger syndrome ; Autosomal recessive inheritance ; Cerebro-hepato-renal syndrome ; Peroxisomal disease ; Mental retardation ; Epilepsy ; Hepatic fibrosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 4.5-year-old male patient is described with chorioretinopathy, minor facial anomalies, delayed closure of the fontanel, mental retardation, moderate hypotonia, epilepsy and hepatic fibrosis. Postural control, intentional vocalising and manual dexterity were superior to the performance of patients with classical Zellweger syndrome (ZS). Morphologically distinct peroxisomes were absent in the liver. In blood elevated pipecolic acid levels and abnormal levels of bile acid intermediates were found. The plasmalogen content of erythrocytes was normal. In fibroblasts we found an accumulation of very long chain fatty acids, decreased activity of acyl CoA: dihydroxyacetone phosphate acyltransferase, and impaired de novo biosynthesis of plasmalogens. On the basis of these clinical, ultrastructural and biochemical characteristics we assume that this patient represents a milder variant of the classical cerebro-hepato-renal syndrome of Zellweger.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441774
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  • 6
    Electronic Resource
    Electronic Resource
    Peroxisomal disorders: A newly recognised group of genetic diseases (1986)
    Springer
    European journal of pediatrics 144 (1986), S. 430-440 
    Details
    ISSN: 1432-1076
    Keywords: Adrenoleukodystrophy ; Chondrodysplasia punctata ; Peroxisomes ; Refsum disease ; Zellweger syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441734
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