[Prenatal diagnosis of globoid-cell leukodystrophy (Krabbe's disease) (author's transl)].

Abstract

Amniocentesis in the 17th week of pregnancy in a 23-year-old woman who had previously lost a child with enzymatically proven Krabbe's disease revealed normal activity in cell-free amniotic fluid. But in two amniotic cell cultures a 25% defect of cerebroside-beta-galactosidase was found. The prenatal diagnosis of Krabbe's disease was subsequently confirmed after abortion of the fetus by enzymatic and morphological examination (globoid cells in the spinal-cord sections).

• Authors: K Harzer, H U Benz, H Knörr-Gärtner, W D Jonatha, K Knörr
• Journal: Deutsche medizinische Wochenschrift (1946) (Dtsch Med Wochenschr) Vol. 101 Issue 21 Pg. 821-7 (May 21 1976) ISSN: 0012-0472 [Print] Germany
• Vernacular Title: Pränatale Diagnose der Globoidzell-Leukodystrophie (Morbus Krabbe).
• PMID: 1269411 (Publication Type: English Abstract, Journal Article)

Chemical References

• Cerebrosides
• Prostaglandins
• Galactosidases

Topics

• Abortion, Induced
• Adult
• Amniocentesis
• Cerebrosides
• Female
• Galactosidases (deficiency)
• Humans
• Leukodystrophy, Globoid Cell (diagnosis)
• Pregnancy
• Prenatal Diagnosis
• Prostaglandins