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  • 1
    Electronic Resource
    Electronic Resource
    Phenylalanine and UVA light for the treatment of vitiligo (1985)
    Springer
    Archives of dermatological research 277 (1985), S. 126-130 
    Details
    ISSN: 1432-069X
    Keywords: Phenylalanine and UVA therapy ; Phe-UVA ; Photochemotherapy of vitiligo
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The administration of phenylalanine (Phe) combined with UVA exposure was found to be effective in vitiligo. Phe is an amino acid which constitutes part of the daily dietary protein, and when orally administered in a dose of 50 mg/kg body weight, it results in an elevated plasma level. Since peak concentrations of Phe in the blood are reached between 30 and 45 min after ingestion, UVA exposure was administered at this time. After 4 months (32 treatments) reasonable repigmentation preferentially occurred in the skin area of subcutaneous fat (adipose tissue). Apart from the repigmentation of hypopigmented macules, vitiligo patients can tolerate more sun than usual, especially at the vitiliginous lesion, and they experience no sunburn as a result of Phe-UVA therapy. Normal skin also tans very well.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00414110
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  • 2
    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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  • 3
    Electronic Resource
    Electronic Resource
    Impaired plasmalogen metabolism in infantile Refsum's disease (1986)
    Springer
    European journal of pediatrics 144 (1986), S. 513-514 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441753
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  • 4
    Electronic Resource
    Electronic Resource
    A prenatal test for the cerebro-hepato-renal (Zellweger) syndrome by demonstration of the absence of catalase-containing particles (peroxisomes) in cultured amniotic fluid cells (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 136-138 
    Details
    ISSN: 1432-1076
    Keywords: Cerebro-hepato-renal syndrome ; Zellweger syndrome ; Peroxisomes ; Prenatal diagnosis ; Inborn error
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In this paper we show that whereas acyl-CoA: dihydroxyacetone phosphate acyltransferase, a membranebound peroxisomal enzyme, is deficient in homogenates of cultured amniotic fluid cells of fetuses with Zellweger syndrome, catalase a soluble peroxisomal matrix enzyme is present in normal amounts. Digitonin titration experiments revealed a striking difference in the percentage of particle-bound catalase in control and Zellweger aminocytes: in Zellweger amniocytes all catalase activity was found to be present in the soluble cytoplasm, (〈5% particlebound), whereas in control amniocytes catalase was found to be predominantly particle-bound (62%±8%, n=5). Measurement of the percentage of particle-bound catalase by means of digitonin titrations thus provides a simple prenatal test for Zellweger syndrome via the direct demonstration of the presence or absence of catalase-containing particles (peroxisomes).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441876
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  • 5
    Electronic Resource
    Electronic Resource
    Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation (1992)
    Springer
    European journal of pediatrics 151 (1992), S. 127-131 
    Details
    ISSN: 1432-1076
    Keywords: Glycogen storage disease type II ; Pompe disease ; cblC mutation ; Vitamin B12 ; Cobalamin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Metabolic studies are described in a patient who presented at 3 weeks of age with severe anaemia, hyperbilirubinaemia and hypotonicity. Clinically, glycogen storage disease type II (Pompe disease) was suspected because of a massively enlarged heart and hepatosplenomegaly. This was confirmed biochemically by the demonstration of glycogen accumulation in skeletal muscle and undetectable acid α-1,4-glucosidase activity in fibroblasts. Further biochemical studies in this patient surprisingly revealed homocystinuria and methylmalonic aciduria, suggesting a defect in the uptake, transport or intracellular metabolism of vitamin B12. Studies in cultured fibroblasts from the patient revealed a low uptake of [57Co]cyanocobalamin and an impaired intracellular conversion to both 5′-deoxyadenosylcobalamin and methylcobalamin. Moreover, the incorporation of labelled propionate into proteins as well as the formation of labelled methionine from labelled 5-methyltetrahydrofolate was deficient in fibroblasts from the patient. Complementation studies revealed the presence of the cblC mutation in this patient. No treatment was initiated and the patient died at the age of 31 days. We conclude that the patient was affected by both glycogen storage disease type II and cblC disease. The remarkable combination of these two rare inborn errors can be the result of the consanguinity of the parents.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01958957
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  • 6
    Electronic Resource
    Electronic Resource
    Isolated defect of peroxisomal β-oxidation in a 16-year-old patient (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 339-342 
    Details
    ISSN: 1432-1076
    Keywords: Peroxisomes ; Inborn error ; Hepatosplenomegaly ; Psychomotor retardation ; Fatty acid
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe a 16-year-old boy suffering from psychomotor retardation, sensorineuronal hearing impairment, peripheral neuropathy, hepatosplenomegaly, short stature and delayed puberty. Postnatally, muscular hypotonia, mild facial dysmorphism and delayed fontanelle closure had been noticed. At the time of our examination, adrenal cortical function was normal. Biochemical analysis revealed accumulation of very long (〉C22) chain fatty acids in plasma and fibroblasts. Furthermore, elevated levels of intermediates of bile acid synthesis and phytanic acid were detectable. These findings are consistent with a defect in the peroxisomal β-oxidation system. A generalised defect of peroxisomal function was excluded by normal plasmalogen levels in erythrocytes and normal plasmalogen de novo synthesis in fibroblasts. Immunoblotting of the peroxisomal β-oxidation enzymes gave normal results suggesting retained immunoreactivity but catalytic inactivity of one of the enzymes involved, probably either the trifunctional protein or the peroxisomal ketothiolase. This case markedly differs clinically from the few published reports on isolated deficiencies of peroxisomal β-oxidation. Among the patients with comparable biochemical findings, this is the first report of survival into adolescence.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01956749
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  • 7
    Electronic Resource
    Electronic Resource
    Isolated dihydroxyacetonephosphate- acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 1035-1039 
    Details
    ISSN: 1432-1076
    Keywords: Key words Rhizomelic ; chondrodysplasia punctata ; Dihydroxyacetonephosphate-acyl-transferase ; Electron microscopy ; Peroxisomes ; Morphometry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Rhizomelic chondrodysplasia punctata (RCDP) is clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a characteristic dysmorphic face, and cataracts. In the classical form an impairment of several peroxisomal functions and enzymes (plasmalogen synthesis, phytanic acid oxidation, 3-oxoacyl-CoA thiolase) has been repeatedly shown. Recently a variant involving only the peroxisomal dihydroxyacetonephosphate acyltransferase (DHAP-AT) has been described. We present a patient with isolated DHAP-AT deficiency and all clinical, radiological, and pathological features of classical RCDP. For the first time, microscopy and immunocytochemistry of hepatocytes could be performed. Conclusion In contrast to studies on classical rhizomelic chondrodysplasia punctata which have shown enlarged peroxisomes in numbers varying from hepatocyte to hepatocyte, the peroxisomes in our patient seem to be normal in size, number and shape.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050529
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  • 8
    Electronic Resource
    Electronic Resource
    Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts (1982)
    Springer
    European journal of pediatrics 139 (1982), S. 39-42 
    Details
    ISSN: 1432-1076
    Keywords: Beta-ketothiolase deficiency ; 2-methyl-3-hydroxybutyric aciduria ; 2-Methyl-acetoacetyl-coenzyme-A-thiolase deficiency ; Organic aciduria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A boy of 6.5 years and his 36-year-old father were found to excrete elevated amounts of urinary 2-methyl-3-hydroxybutyric acid and tiglylglycine, as is found in patients with a presumed β-ketothiolase deficiency. Psychomotor development of both patients was normal. The clinical picture was mild, as only during periods with infections does metabolic acidosis develop and clinical abnormalities become noticeable. In vivo loading tests with protein and especially with L(+) isoleucine resulted in massive excretion of 2-methyl-3-hydroxy-butyric acid and tiglyglycine. Enzymatic activity of 3-keto-acyl-CoA thiolase was not detectable in patients fibroblasts using 2-methyl-acetoacetyl-CoA as substrate, whereas with acetoacetyl-CoA as substrate, a lowered activity was found. As ketogenesis in these patients was normal, these findings strongly suggest that the inborn metabolic defect known as β-ketothiolase deficiency is caused by a deficiency of the mitochondrial acetoacyl-CoA specific thiolase isoenzyme involved in thiolysis of (2-methyl) acetoacetyl-CoA, whereas the isoenzyme involved in ketogenesis is not affected.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442077
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  • 9
    Electronic Resource
    Electronic Resource
    Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal β-oxidation enzyme proteins (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 172-175 
    Details
    ISSN: 1432-1076
    Keywords: Infantile Refsum disease ; Cerebro-hepato-renal (Zellweger) syndrome ; Peroxisomes ; Inborn error of metabolism ; Enzyme deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In recent years a number of biochemical abnormalities have been described in patients with the infantile form of Refsum disease, including the accumulation of very long chain fatty acids, trihydroxycoprostanoic acid and pipecolic acid. In this paper we show that catalase-containing particles (peroxisomes), alkyl dihydroxyacetone phosphate synthase and acyl-CoA oxidase protein are deficient in patients with infantile Refsum disease. These findings suggest that in the infantile form of Refsum disease, as in the cerebro-hepato-renal (Zellweger) syndrome the multiplicity of biochemical abnormalities is due to a deficiency of peroxisomes and hence to a generalized loss of peroxisomal functions. As a consequence the infantile form of Refsum disease can be diagnozed biochemically by methods already available for the prenatal and postnatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00446057
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  • 10
    Electronic Resource
    Electronic Resource
    Peroxisomal β-oxidation defect with detectable peroxisomes: A case with neonatal onset and progressive course (1990)
    Springer
    European journal of pediatrics 149 (1990), S. 722-726 
    Details
    ISSN: 1432-1076
    Keywords: Peroxisome ; Peroxisomal disorder ; Leukodystrophy ; Inborn error ; Fatty acid
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A progressive demyelinating cerebral disorder is described in a normally-appearing female infant with neonatal seizures, progressive psychomotor deterioration, deafness, retinopathy, peripheral neuropathy and loss of myelin observed on magnetic resonance imaging (MRI) scanning. MRI also showed the absence of macroscopic neocortical dysplasia which is usually found in Zellweger syndrome (ZS). Adrenal cortical function was normal. The patient died at the age of 37 months. Extensive biochemical investigations of peroxisomal functions in the patient revealed an impairment of peroxisomal β-oxidation resulting in elevated levels of very long (〉C22) chain fatty acids in plasma and fibroblasts. Moreover, elevated plasma levels of intermediates of bile acid biosynthesis such as tri- and dihydroxycholestanoic acid were found. Other peroxisomal functions were normal. Immunoblotting of the peroxisomal β-oxidation enzyme proteins in liver from the patient revealed normal responses with antisera against acyl-CoA oxidase, bifunctional protein and thiolase respectively. From these data we conclude that the patient had a deficiency of a single peroxisomal β-oxidation enzyme at the level of either the bifunctional protein or peroxisomal thiolase with retained immunoreactivity against these enzymes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01959531
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