Metachromatic Leukodystrophy due to Saposin B Deficiency

Also Known As:

Metachromatic Leukodystrophy due to Cerebroside Sulfatase Activator Deficiency; Saposin B Deficiency

Networked: 8 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
- Demyelinating Diseases: 9131
  - Hereditary Central Nervous System Demyelinating Diseases
    - Metachromatic Leukodystrophy: 699
      - Metachromatic Leukodystrophy due to Saposin B Deficiency: 8
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Leukoencephalopathies: 1557
      - Hereditary Central Nervous System Demyelinating Diseases
        Metachromatic Leukodystrophy: 699
        Metachromatic Leukodystrophy due to Saposin B Deficiency: 8
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Hereditary Central Nervous System Demyelinating Diseases
        Metachromatic Leukodystrophy: 699
        Metachromatic Leukodystrophy due to Saposin B Deficiency: 8
        Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Sulfatidosis: 3
        Metachromatic Leukodystrophy: 699
        Metachromatic Leukodystrophy due to Saposin B Deficiency: 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
Enzymes and Coenzymes: 1
- Coenzymes: 558
  - Sphingolipid Activator Proteins: 15
    - Saposins: 166
      - Metachromatic Leukodystrophy due to Saposin B Deficiency: 8

Related Diseases

1.	Metachromatic Leukodystrophy (Sulfatide Lipidosis)
2.	Combined Saposin Deficiency

Experts

1.	Grabowski, Gregory A: 2 articles (07/2013 - 06/2013)
2.	Sun, Ying: 2 articles (07/2013 - 06/2013)
3.	Burin, Maira: 1 article (01/2020)
4.	Conboy, Erin: 1 article (01/2020)
5.	Gavrilov, Dimitar: 1 article (01/2020)
6.	Giugliani, Roberto: 1 article (01/2020)
7.	Lacey, Jean: 1 article (01/2020)
8.	Matern, Dietrich: 1 article (01/2020)
9.	Minnich, Sara: 1 article (01/2020)
10.	Nickander, Kim: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Metachromatic Leukodystrophy due to Saposin B Deficiency:

1.	SaposinsIBA 07/01/2013 - "Combined saposin A and saposin B deficiency (AB(-/-)) was created in mice by knock-in of point mutations into the saposin A and B domains of the Psap (encoding prosaposin) locus. " 02/15/2009 - "Prosaposin deficiency (pSap-d) and saposin B deficiency (SapB-d) are both lipid storage disorders caused by mutations in the PSAP gene that codes for the 65-70 kDa prosaposin protein, which is the precursor for four sphingolipid activator proteins, saposins A-D. "
2.	Sulfoglycosphingolipids (Sulfatides)IBA 01/01/2020 - "Multiplex analysis was performed on 25 sulfatiduria case samples and compiled with retrospective data from an additional 15 cases revealing unique patterns of biomarkers for each disorder of sulfatide degradation (MLD, MSD, and Saposin B deficiency) and for MLII/III, thus allowing the formulation of a novel algorithm for the biochemical diagnosis of these disorders. " 06/15/2013 - "Blocking sulfatide degradation from the saposin B deficiency diminished galactosylceramide accumulation in the brain and kidney and galctosylsphingosine in the brain. "
3.	Cerebroside-Sulfatase (Arylsulfatase A)IBA 01/01/2008 - "Arylsulfatase A activity is deficient in the classical forms of MLD, but exceedingly rare cases of MLD are due to saposin-B deficiency. " 07/01/2023 - "Normal enzyme activity of arylsulfatase-A led to a suspicion of saposin B deficiency. "
4.	Sphingolipid Activator ProteinsIBA 02/15/2009 - "Prosaposin deficiency (pSap-d) and saposin B deficiency (SapB-d) are both lipid storage disorders caused by mutations in the PSAP gene that codes for the 65-70 kDa prosaposin protein, which is the precursor for four sphingolipid activator proteins, saposins A-D. "
5.	Biomarkers (Surrogate Marker)IBA 01/01/2020 - "Multiplex analysis was performed on 25 sulfatiduria case samples and compiled with retrospective data from an additional 15 cases revealing unique patterns of biomarkers for each disorder of sulfatide degradation (MLD, MSD, and Saposin B deficiency) and for MLII/III, thus allowing the formulation of a novel algorithm for the biochemical diagnosis of these disorders. "
6.	SphingolipidsIBA 02/15/2009 - "Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations."
7.	Proteins (Proteins, Gene)FDA Link 02/15/2009 - "Prosaposin deficiency (pSap-d) and saposin B deficiency (SapB-d) are both lipid storage disorders caused by mutations in the PSAP gene that codes for the 65-70 kDa prosaposin protein, which is the precursor for four sphingolipid activator proteins, saposins A-D. "
8.	LipidsIBA 02/15/2009 - "Prosaposin deficiency (pSap-d) and saposin B deficiency (SapB-d) are both lipid storage disorders caused by mutations in the PSAP gene that codes for the 65-70 kDa prosaposin protein, which is the precursor for four sphingolipid activator proteins, saposins A-D. "
9.	Galactosylceramides (Galactocerebrosides)IBA 06/15/2013 - "Blocking sulfatide degradation from the saposin B deficiency diminished galactosylceramide accumulation in the brain and kidney and galctosylsphingosine in the brain. "
10.	EnzymesIBA 07/01/2023 - "Normal enzyme activity of arylsulfatase-A led to a suspicion of saposin B deficiency. "

Therapies and Procedures

1.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 07/01/1998 - "Bone marrow transplantation in metachromatic leukodystrophy caused by saposin-B deficiency: a case report with a 3-year follow-up period."