Library

X
feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Electronic Resource
    Electronic Resource
    Erstmanifestation eines Abbaudefekts überlangkettiger Fettsäuren (VLCADD) mit letalem Ausgang (1998)
    Springer
    Monatsschrift Kinderheilkunde 146 (1998), S. 484-486 
    Details
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Acyl-CoA-Dehydrogenase-Defekt überlangkettiger Fettsäuren ; Dikarbonazidurie ; Hypertrophische Kardiomyopathie ; Key words Very-long-chain acyl-CoA dehydrogenase deficiency ; Dicarboxylic aciduria ; Hypertrophic cardiomyopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare disorder of the mitochondrial β-oxidation pathway. A female infant at 2,5 months of age presented with coma, cardiorespiratory arrest, hypoketotic hypoglycemia, hepatomegaly and hypertrophic cardiomyopathy. Urinary dicarboxylic acid profile suggested VLCADD. This diagnosis was confirmed by reduced enzyme activity in fibroblasts (20% of controls). After a few days the infant died of peritonitis caused by a penetrating ulcer of the duodenum. Discussion: A higher incidence of upper gastrointestinal ulcera is reported in patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD). VLCADD is characterized by early onset and high mortality due to cardiac disease. Gastrointestinal complications may contribute to or be directly responsible for death.
    Notes: Zusammenfassung Der Acyl-CoA-Dehydrogenasedefekt überlangkettiger Fettsäuren (very-long-chain acyl-CoA dehydrogenase deficiency, VLCADD) ist eine seltene Störung der mitochondrialen β-Oxidation. Wir berichten über einen weiblichen Säugling, bei dem im Alter von 2,5 Monaten im Rahmen eines Infekts Koma, Herz- und Atemstillstand, hypoketotische Hypoglykämie, Hepatomegalie und hypertrophe Kardiomyopathie auftraten. Ein charakteristisches Dikarbonsäurenmuster im Urin führte zu der Verdachtsdiagnose eines VLCADD, der durch den Nachweis einer auf 20% der Norm herabgesetzten Enzymaktivität in kultivierten Fibroblasten bestätigt wurde. Das Kind verstarb nach wenigen Tagen an einer Peritonitis infolge eines perforierten Ulcus duodeni. Diskussion: Ein gehäuftes Auftreten penetrierender Ulzera des oberen Magen-Darm-Trakts wurde bereits im Zusammenhang mit dem Abbaudefekt mittelkettiger Fettsäuren (medium-chain acyl-CoA dehydrogenase deficiency, MCADD) beschrieben. VLCADD ist charakterisiert durch frühe Erstmanifestation und eine hohe Mortalität, die v.a. auf die Kardiomyopathie zurückgeführt wird, zu der aber auch gastrointestinale Komplikationen beitragen können.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001120050290
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy (1998)
    Springer
    European journal of pediatrics 157 (1998), S. 570-575 
    Details
    ISSN: 1432-1076
    Keywords: Key words Holocarboxylase synthetase deficiency ; Biotin therapy ; Prenatal diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The clinical and biochemical findings in a family with late-onset holocarboxylase synthetase (HCS) deficiency are described. The index patient had two life-threatening episodes of metabolic decompensation at the age of 13 and 18 months with ketotic hypoglycaemia, vomiting and progressive loss of consciousness. The child recovered without biotin therapy. Organic aciduria characteristic of multiple carboxylase deficiency (MCD) was found, however, the key metabolites were only slightly elevated in some samples. Biotinidase deficiency was considered but excluded by the finding of normal plasma biotinidase activity. The correct diagnosis was made only at the age of 19 months when severe MCD was found in lymphocytes in the presence of normal plasma biotin concentration. HCS deficiency was confirmed by fibroblast studies. Biotin therapy (20 or 40 mg/day) prevented further episodes and normalized biochemical parameters with so far normal development. During two subsequent pregnancies, 10 mg biotin/day was administered to the mother from the 20th week of gestation. At delivery plasma biotin in cord blood samples was 3–4 times higher than in maternal plasma. The 2nd child was unaffected. In the 3rd pregnancy prenatal diagnosis was performed at 16 weeks of gestation. The concentration of methylcitrate in amniotic fluid was within the normal range and that of 3-hydroxyisovalerate only slightly elevated. However, enzyme assays in cultured amniotic fluid cells were consistent with an affected fetus. At birth, carboxylase activities in lymphocytes of this newborn were only moderately decreased to 37% of mean normal. HCS deficiency was confirmed postnatally in fibroblasts. Development remains normal on biotin therapy (20 mg/day). Conclusion Prenatal diagnosis in families with milder forms of HCS deficiency has to be performed by enzyme assays in cultured amniotic cells since organic acid analysis of amniotic fluid may be inconclusive in affected fetuses. Biotin administered prenatally is effectively taken up by the fetus and prevents functional deficiency of the carboxylases in an affected newborn.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050881
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Mitochondrial acetoacetyl-CoA thiolase (β-ketothiolase) deficiency and pregnancy (1998)
    Springer
    Journal of inherited metabolic disease 21 (1998), S. 441-442 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005335515166
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...