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Disease Leukodystrophy, Metachromatic

Name Leukodystrophy, Metachromatic
Synonyms Adult Metachromatic Leukodystrophies | Adult Metachromatic Leukodystrophy | Adult-Type Metachromatic Leukodystrophies | Adult-Type Metachromatic Leukodystrophy | ARSA Deficiencies | ARSA Deficiency | Arylsulfatase A Deficiencies | Arylsulfatase A Deficiency | Arylsulfatase A Deficiency Disease | Cerebral sclerosis, Diffuse, Metachromatic Form | Cerebroside Sulfatase Deficiencies | Cerebroside Sulfatase Deficiency | CEREBROSIDE SULFATASE DEFICIENCY PSEUDOARYLSULFATASE A DEFICIENCY, INCLUDED | Cerebroside Sulphatase Deficiency Disease | Deficiencies, ARSA | Deficiencies, Arylsulfatase A | Deficiencies, Cerebroside Sulfatase | Deficiency, ARSA | Deficiency, Arylsulfatase A | Deficiency, Cerebroside Sulfatase | Greenfield Disease | Greenfield's Disease | 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 | Leukodystrophy, Metachromatic, Adult | Leukodystrophy, Metachromatic, Juvenile | 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 | Metachromatic Leukodystrophy, Adult | METACHROMATIC LEUKODYSTROPHY, ADULT, INCLUDED | Metachromatic Leukodystrophy, Adult Type | Metachromatic Leukodystrophy, Adult-Type | Metachromatic Leukodystrophy, Infant | Metachromatic Leukodystrophy, Infant Type | Metachromatic Leukodystrophy, Infant-Type | Metachromatic Leukodystrophy, Juvenile | METACHROMATIC LEUKODYSTROPHY, JUVENILE, INCLUDED | Metachromatic Leukodystrophy, Juvenile Type | Metachromatic Leukodystrophy, Juvenile-Type | Metachromatic Leukodystrophy, Late Infantile | METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE, INCLUDED | Metachromatic Leukoencephalopathies | Metachromatic Leukoencephalopathy | MLD | Sulfatase Deficiencies, Cerebroside | Sulfatase Deficiency, Cerebroside | Sulfatide Lipidosis
Definition 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.
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D007966
OMIM® ID 250100
External Links

Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Hereditary Central Nervous System Demyelinating Diseases Has associated chemicals Has associated genes Leukodystrophy, Metachromatic Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Sulfatidosis Has associated chemicals Has associated genes Leukodystrophy, Metachromatic Has associated chemicals Has associated genes
3. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Leukoencephalopathies Has associated chemicals Has associated genes Has associated exposure references Hereditary Central Nervous System Demyelinating Diseases Has associated chemicals Has associated genes Leukodystrophy, Metachromatic Has associated chemicals Has associated genes
4. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Demyelinating Diseases Has associated chemicals Has associated genes Has associated exposure references Hereditary Central Nervous System Demyelinating Diseases Has associated chemicals Has associated genes Leukodystrophy, Metachromatic Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Hereditary Central Nervous System Demyelinating Diseases Has associated chemicals Has associated genes Leukodystrophy, Metachromatic Has associated chemicals Has associated genes
6. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Sulfatidosis Has associated chemicals Has associated genes Leukodystrophy, Metachromatic Has associated chemicals Has associated genes
7. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Lipidoses Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Sulfatidosis Has associated chemicals Has associated genes Leukodystrophy, Metachromatic Has associated chemicals Has associated genes
8. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Sulfatidosis Has associated chemicals Has associated genes Leukodystrophy, Metachromatic Has associated chemicals Has associated genes
9. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Hereditary Central Nervous System Demyelinating Diseases Has associated chemicals Has associated genes Leukodystrophy, Metachromatic Has associated chemicals Has associated genes
10. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Sulfatidosis Has associated chemicals Has associated genes Leukodystrophy, Metachromatic Has associated chemicals Has associated genes
11. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism Disorders Has associated chemicals Has associated genes Has associated exposure references Lipidoses Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Sulfatidosis Has associated chemicals Has associated genes Leukodystrophy, Metachromatic Has associated chemicals Has associated genes
12. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Hereditary Central Nervous System Demyelinating Diseases Has associated chemicals Has associated genes Leukodystrophy, Metachromatic Has associated chemicals Has associated genes
13. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Sulfatidosis Has associated chemicals Has associated genes Leukodystrophy, Metachromatic Has associated chemicals Has associated genes
14. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Lipidoses Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Sulfatidosis Has associated chemicals Has associated genes Leukodystrophy, Metachromatic Has associated chemicals Has associated genes
15. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Sulfatidosis Has associated chemicals Has associated genes Leukodystrophy, Metachromatic Has associated chemicals Has associated genes

Top ↑ Descendants

Leukodystrophy, Metachromatic Has associated chemicals Has associated genes
  Cerebral Sclerosis, Diffuse, Scholz Type
  Combined Saposin Deficiency Has associated chemicals Has associated genes
  Metachromatic Leukodystrophy, Adult-Onset, with Normal Arylsulfatase A
  Metachromatic Leukodystrophy due to Saposin B Deficiency Has associated chemicals Has associated genes
  Pseudoarylsulfatase A Deficiency