BIOMAT Database Logo BIOMAT Database Logo

[Biochemical diagnosis of globoid cell leukodystrophy (Krabbe's disease)]. 1985

I V Tsvetkova, and T V Zolotukhina, and R A Rozenfel'd

beta-Galactosylceramidase activity was deficient in leukocytes of a 5-month old child with neuro-degenerative disease. The activities of beta-galactosidase and arylsulphatase A were within normal limits. The beta-galactosylcerebrosidase activity in the mother's and father's leukocytes was 25% and 68%, respectively of the mean control values. A sharp decrease of beta-galactosylceramidase activity was found in cultured skin fibroblasts of the child. The data obtained indicate that the child suffered from globoid cell leukodystrophy (Krabbe's disease). The diagnosis was confirmed after liver and brain autopsy. The beta-galactosylceramidase was not revealed in these tissues. Typical globoid cells were observed in microscopical examination of the brain.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007962 Leukocytes White blood cells. These include granular leukocytes (BASOPHILS; EOSINOPHILS; and NEUTROPHILS) as well as non-granular leukocytes (LYMPHOCYTES and MONOCYTES). Blood Cells, White,Blood Corpuscles, White,White Blood Cells,White Blood Corpuscles,Blood Cell, White,Blood Corpuscle, White,Corpuscle, White Blood,Corpuscles, White Blood,Leukocyte,White Blood Cell,White Blood Corpuscle
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
D008099 Liver A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances. Livers
D008247 Lysosomes A class of morphologically heterogeneous cytoplasmic particles in animal and plant tissues characterized by their content of hydrolytic enzymes and the structure-linked latency of these enzymes. The intracellular functions of lysosomes depend on their lytic potential. The single unit membrane of the lysosome acts as a barrier between the enzymes enclosed in the lysosome and the external substrate. The activity of the enzymes contained in lysosomes is limited or nil unless the vesicle in which they are enclosed is ruptured or undergoes MEMBRANE FUSION. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed). Autolysosome,Autolysosomes,Lysosome
D008297 Male Males
D001921 Brain The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM. Encephalon
D002553 Cerebroside-Sulfatase An enzyme that catalyzes the hydrolysis of cerebroside 3-sulfate (sulfatide) to yield a cerebroside and inorganic sulfate. A marked deficiency of arylsulfatase A, which is considered the heat-labile component of cerebroside sulfatase, has been demonstrated in all forms of metachromatic leukodystrophy (LEUKODYSTROPHY, METACHROMATIC). EC 3.1.6.8. Arylsulfatase A,Sulfatidate Sulfatase,Cerebroside Sulfatase,Sulfatase, Sulfatidate
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

Related Publications

I V Tsvetkova, and T V Zolotukhina, and R A Rozenfel'd
[Globoid cell leukodystrophy (Krabbe's disease)].
January 1985, Arkhiv patologii,
I V Tsvetkova, and T V Zolotukhina, and R A Rozenfel'd
Krabbe's disease: globoid cell leukodystrophy.
June 1973, Canadian Medical Association journal,
I V Tsvetkova, and T V Zolotukhina, and R A Rozenfel'd
[Krabbe's disease--globoid cell leukodystrophy].
February 1997, Ugeskrift for laeger,
I V Tsvetkova, and T V Zolotukhina, and R A Rozenfel'd
Globoid cell leukodystrophy (Krabbe's disease): morphological and biochemical studies.
April 1971, Neurology,
I V Tsvetkova, and T V Zolotukhina, and R A Rozenfel'd
Globoid cell leukodystrophy (Krabbe's disease): update.
September 2003, Journal of child neurology,
I V Tsvetkova, and T V Zolotukhina, and R A Rozenfel'd
Globoid leukodystrophy (Krabbe's disease).
August 1970, The Indian journal of medical research,
I V Tsvetkova, and T V Zolotukhina, and R A Rozenfel'd
[Krabbe's globoid-cell leukodystrophy].
January 1984, Arkhiv patologii,
I V Tsvetkova, and T V Zolotukhina, and R A Rozenfel'd
[Krabbe's disease: globoid cell leukodystrophy. Clinical and prenatal diagnosis].
October 1985, Tijdschrift voor kindergeneeskunde,
I V Tsvetkova, and T V Zolotukhina, and R A Rozenfel'd
Krabbe's disease. Globoid cell type of leukodystrophy.
January 1963, Archives of neurology,
I V Tsvetkova, and T V Zolotukhina, and R A Rozenfel'd
[Prenatal diagnosis of globoid-cell leukodystrophy (Krabbe's disease) (author's transl)].
May 1976, Deutsche medizinische Wochenschrift (1946),
Copied contents to your clipboard!