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Prenatal diagnosis of Krabbe disease. 1981

M T Vanier, and L Svennerholm, and J E Månsson, and G Håkansson, and A Boué, and J Lindsten

Krabbe disease was diagnosed prenatally in Göteborg (Sweden) and Lyon (France) by assaying the cerebroside-beta-galactosidase activity with galactosylceramides and lactosylceramides as substrates in cultivated amniotic fluid cells. Altogether, 48 pregnancies at risk were monitored between 1972 and 1980. Ten pregnancies at risk were terminated because of a predicted affection of the fetus. Biochemical examination of material available from 7 of the 10 abortuses confirmed the diagnoses. All the remaining 36 pregnancies ended in the birth of a healthy infant. The study showed that prenatal diagnosis of Krabbe disease is difficult because of the relatively high residual cerebroside-beta-galactosidase activity in some affected fetuses. Except for the large biological variation, the enzyme activity was sensitive to variation in cultivation conditions and differed strikingly between morphologically different cell types. These two factors were controlled by including control cell samples cultivated under identical conditions and by relating the cerebroside-beta-galactosidase activity to that of two marker enzymes. The biological variation was investigated further by measuring the cerebroside-beta-galactosidase activity in cultured skin fibroblasts from infants with Krabbe disease and from their parents. Results obtained in 18 unrelated patients with Krabbe disease, 26 obligate heterozygotes and 63 controls showed a wide range of variation in enzyme activity in the controls, a large overlap between the controls and obligate heterozygotes, and a high residual activity in some patients. Nevertheless, a high residual activity in a patient was combined with a relatively high enzyme activity in the two parents. In the light of the above findings and deliberations, it appears warranted to conclude that laboratories with experienced personnel can make a reliable prenatal diagnosis of Krabbe disease and that the examination should be offered to all known couples at risk.

UI MeSH Term Description Entries
D007965 Leukodystrophy, Globoid Cell An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses. Diffuse Globoid Body Sclerosis,Galactosylceramidase Deficiency Disease,Krabbe Disease,Classic Globoid Cell Leukodystrophy,Early-Onset Globoid Cell Leukodystrophy,GALC Deficiency,Galactocerebrosidase Deficiency,Galactosylceramide Lipidosis,Galactosylceramide beta-Galactosidase Deficiency,Galactosylceramide-beta-Galactosidase Deficiency Disease,Galactosylcerebrosidase Deficiency,Galactosylsphingosine Lipidosis,Globoid Body Sclerosis, Diffuse,Globoid Cell Leukodystrophy,Globoid Cell Leukoencephalopathy,Globoid Leukodystrophy,Infantile Globoid Cell Leukodystrophy,Krabbe Leukodystrophy,Krabbe's Disease,Krabbe's Leukodystrophy,Late-Onset Globoid Cell Leukodystrophy,Leukodystrophy, Globoid Cell, Classic,Leukodystrophy, Globoid Cell, Early-Onset,Leukodystrophy, Globoid Cell, Infantile,Leukodystrophy, Globoid Cell, Late-Onset,Psychosine Lipidosis,Cell Leukodystrophies, Globoid,Cell Leukodystrophy, Globoid,Cell Leukoencephalopathies, Globoid,Cell Leukoencephalopathy, Globoid,Deficiencies, GALC,Deficiencies, Galactocerebrosidase,Deficiencies, Galactosylceramide beta-Galactosidase,Deficiency Disease, Galactosylceramidase,Deficiency Disease, Galactosylceramide-beta-Galactosidase,Deficiency Diseases, Galactosylceramidase,Deficiency Diseases, Galactosylceramide-beta-Galactosidase,Deficiency, GALC,Deficiency, Galactocerebrosidase,Deficiency, Galactosylceramide beta-Galactosidase,Disease, Galactosylceramidase Deficiency,Disease, Galactosylceramide-beta-Galactosidase Deficiency,Diseases, Galactosylceramidase Deficiency,Diseases, Galactosylceramide-beta-Galactosidase Deficiency,Early Onset Globoid Cell Leukodystrophy,GALC Deficiencies,Galactocerebrosidase Deficiencies,Galactosylceramidase Deficiency Diseases,Galactosylceramide beta Galactosidase Deficiency,Galactosylceramide beta Galactosidase Deficiency Disease,Galactosylceramide beta-Galactosidase Deficiencies,Galactosylceramide-beta-Galactosidase Deficiency Diseases,Globoid Cell Leukodystrophies,Globoid Cell Leukoencephalopathies,Globoid Leukodystrophies,Krabbes Disease,Krabbes Leukodystrophy,Late Onset Globoid Cell Leukodystrophy,Leukodystrophies, Globoid,Leukodystrophies, Globoid Cell,Leukodystrophy, Globoid,Leukodystrophy, Krabbe,Leukodystrophy, Krabbe's,Leukoencephalopathies, Globoid Cell,Leukoencephalopathy, Globoid Cell,beta-Galactosidase Deficiencies, Galactosylceramide,beta-Galactosidase Deficiency, Galactosylceramide
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011296 Prenatal Diagnosis Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D002478 Cells, Cultured Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others. Cultured Cells,Cell, Cultured,Cultured Cell
D005260 Female Females
D005698 Galactosylceramidase An enzyme that hydrolyzes galactose from ceramide monohexosides. Deficiency of this enzyme may cause globoid cell leukodystrophy (LEUKODYSTROPHY, GLOBOID CELL). EC 3.2.1.46. Galactocerebrosidase,Galactosylceramide Galactosidase,Galactosylceramide beta-Galactosidase,Galactosylcerebroside beta-Galactosidase,Galactosidase, Galactosylceramide,beta-Galactosidase, Galactosylceramide,beta-Galactosidase, Galactosylcerebroside
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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