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due to Saposin A Deficiency Atypical Krabbe Disease

mutation in prosaposin

Also Known As:

Krabbe Disease, Atypical, due to Saposin A Deficiency; Saposin A Deficiency

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
- Demyelinating Diseases: 9131
  - Hereditary Central Nervous System Demyelinating Diseases
    - Globoid Cell Leukodystrophy: 677
      - due to Saposin A Deficiency Atypical Krabbe Disease: 3
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Leukoencephalopathies: 1557
      - Hereditary Central Nervous System Demyelinating Diseases
        Globoid Cell Leukodystrophy: 677
        due to Saposin A Deficiency Atypical Krabbe Disease: 3
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Hereditary Central Nervous System Demyelinating Diseases
        Globoid Cell Leukodystrophy: 677
        due to Saposin A Deficiency Atypical Krabbe Disease: 3
        Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Globoid Cell Leukodystrophy: 677
        due to Saposin A Deficiency Atypical Krabbe Disease: 3
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
      - due to Saposin A Deficiency Atypical Krabbe Disease: 3

Related Diseases

1.	Globoid Cell Leukodystrophy (Krabbe Disease)

Experts

1.	Calderwood, Laurel: 1 article (01/2020)
2.	Dahmoush, Hisham: 1 article (01/2020)
3.	Lee, Chung: 1 article (01/2020)
4.	Matern, Dietrich: 1 article (01/2020)
5.	Watiker, Valerie: 1 article (01/2020)
6.	Wenger, David A: 1 article (01/2020)
7.	Bach, Gideon: 1 article (02/2005)
8.	Mandel, Hanna: 1 article (02/2005)
9.	Meidan, Bela: 1 article (02/2005)
10.	Mengistu, Getu: 1 article (02/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to due to Saposin A Deficiency Atypical Krabbe Disease:

1.	SaposinsIBA 02/01/2005 - "A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans."
2.	Psychosine (Galactosylsphingosine)IBA 01/01/2020 - "Rare Saposin A deficiency: Novel variant and psychosine analysis." 01/01/2020 - "We present this case to add to the literature on the rare diagnosis of atypical Krabbe disease due to saposin A deficiency, to report a novel presumed pathogenic variant within PSAP, and to suggest that individuals with saposin A deficiency may have elevated levels of psychosine, similar to children with classic Krabbe disease due to GALC deficiency."
3.	GalactosylceramidaseIBA 09/01/2003 - "Human globoid cell leukodystrophy owing to saposin A deficiency might be anticipated and should be suspected in human patients with a late-onset leukodystrophy with normal galactosylceramidase activity when other possibilities are also excluded. "