BIOMAT Database Logo BIOMAT Database Logo

[Metachromatic leukodystrophy and multiple sulfatase deficiency]. 1978

Y Eto, and H Ohta, and S Numaguchi

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007966 Leukodystrophy, Metachromatic An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms. Arylsulfatase A Deficiency Disease,Cerebroside Sulphatase Deficiency Disease,ARSA Deficiency,Arylsulfatase A Deficiency,Cerebral sclerosis, Diffuse, Metachromatic Form,Cerebroside Sulfatase Deficiency,Greenfield Disease,Greenfield's Disease,Leukodystrophy, Metachromatic, Adult,Leukodystrophy, Metachromatic, Juvenile,Metachromatic Leukodystrophy,Metachromatic Leukodystrophy, Adult,Metachromatic Leukodystrophy, Adult-Type,Metachromatic Leukodystrophy, Infant,Metachromatic Leukodystrophy, Infant-Type,Metachromatic Leukodystrophy, Juvenile,Metachromatic Leukodystrophy, Juvenile-Type,Metachromatic Leukodystrophy, Late Infantile,Metachromatic Leukoencephalopathy,Sulfatide Lipidosis,ARSA Deficiencies,Adult Metachromatic Leukodystrophies,Adult Metachromatic Leukodystrophy,Adult-Type Metachromatic Leukodystrophies,Adult-Type Metachromatic Leukodystrophy,Arylsulfatase A Deficiencies,Cerebroside Sulfatase Deficiencies,Deficiencies, ARSA,Deficiencies, Arylsulfatase A,Deficiencies, Cerebroside Sulfatase,Deficiency, ARSA,Deficiency, Arylsulfatase A,Deficiency, Cerebroside Sulfatase,Infant Metachromatic Leukodystrophies,Infant Metachromatic Leukodystrophy,Infant-Type Metachromatic Leukodystrophies,Infant-Type Metachromatic Leukodystrophy,Juvenile Metachromatic Leukodystrophies,Juvenile Metachromatic Leukodystrophy,Juvenile-Type Metachromatic Leukodystrophies,Juvenile-Type Metachromatic Leukodystrophy,Leukodystrophies, Adult Metachromatic,Leukodystrophies, Adult-Type Metachromatic,Leukodystrophies, Juvenile Metachromatic,Leukodystrophies, Juvenile-Type Metachromatic,Leukodystrophies, Metachromatic,Leukodystrophy, Adult Metachromatic,Leukodystrophy, Adult-Type Metachromatic,Leukodystrophy, Juvenile Metachromatic,Leukodystrophy, Juvenile-Type Metachromatic,Leukoencephalopathies, Metachromatic,Leukoencephalopathy, Metachromatic,Lipidosis, Sulfatide,Metachromatic Leukodystrophies,Metachromatic Leukodystrophies, Adult,Metachromatic Leukodystrophies, Adult-Type,Metachromatic Leukodystrophies, Infant,Metachromatic Leukodystrophies, Infant-Type,Metachromatic Leukodystrophies, Juvenile,Metachromatic Leukodystrophies, Juvenile-Type,Metachromatic Leukodystrophy, Adult Type,Metachromatic Leukodystrophy, Infant Type,Metachromatic Leukodystrophy, Juvenile Type,Metachromatic Leukoencephalopathies,Sulfatase Deficiencies, Cerebroside,Sulfatase Deficiency, Cerebroside
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D013429 Sulfatases A class of enzymes that catalyze the hydrolysis of sulfate ESTERS. Sulfatase

Related Publications

Y Eto, and H Ohta, and S Numaguchi
Studies in metachromatic leukodystrophy. XII. Multiple sulfatase deficiency.
April 1973, Archives of neurology,
Y Eto, and H Ohta, and S Numaguchi
Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy.
November 1981, American journal of human genetics,
Y Eto, and H Ohta, and S Numaguchi
Ocular features of multiple sulfatase deficiency and a new variant of metachromatic leukodystrophy.
January 1984, Journal of pediatric ophthalmology and strabismus,
Y Eto, and H Ohta, and S Numaguchi
Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts.
October 1980, Proceedings of the National Academy of Sciences of the United States of America,
Y Eto, and H Ohta, and S Numaguchi
[Metachromatic leukodystrophy (MLD) and Multiple sulphatase deficiency (MSD)].
December 1995, Nihon rinsho. Japanese journal of clinical medicine,
Y Eto, and H Ohta, and S Numaguchi
Metachromatic leukodystrophy caused by a partial cerebroside sulfatase.
April 1982, Clinical genetics,
Y Eto, and H Ohta, and S Numaguchi
Genetic complementation in somatic cell hybrids of cerebroside sulfatase activator deficiency and metachromatic leukodystrophy fibroblasts.
January 1984, Human genetics,
Y Eto, and H Ohta, and S Numaguchi
[Arylsulfatase A deficiency-metachromatic leukodystrophy].
April 1988, Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme,
Y Eto, and H Ohta, and S Numaguchi
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.
March 2021, JIMD reports,
Y Eto, and H Ohta, and S Numaguchi
Metachromatic form of diffuse cerebral sclerosis. VI. A rapid test for the sulfatase A deficiency in metachromatic leukodystrophy (MLD) urine.
March 1966, Archives of neurology,
Copied contents to your clipboard!