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Sialic Acid Storage Disease (Salla Disease)

Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes, which are allelic variants of the SLC17A5 gene, are ISSD, a severe infantile form, or Salla disease, a slowly progressive adult form, named for the geographic area in Finland where the kindred first studied resided.
Also Known As:
Salla Disease; Sialuria; Infantile Sialic Aid Storage Disorder; Infantile sialic acid storage disorder (ISSD); Finnish Type Sialuria; Finnish Type Sialurias; Infantile Form Sialuria; Infantile Form Sialurias; Sialurias; Sialurias, Finnish Type; Sialurias, Infantile Form; Infantile Sialic Acid Storage Disease; Sialic Acid Storage Disease, Finnish Type; Sialic Acid Storage Disease, Infantile Form; Sialuria, Finnish Type; Sialuria, Infantile Form
Networked: 109 relevant articles (0 outcomes, 8 trials/studies)

Disease Context: Research Results

Related Diseases

1. Sialic Acid Storage Disease (Salla Disease)
2. Mucolipidoses (Sialidosis)
3. Neurodegenerative Diseases (Neurodegenerative Disease)
4. Lysosomal Storage Diseases (Lysosomal Storage Disease)
5. Mental Retardation (Idiocy)

Experts

1. Huizing, Marjan: 5 articles (03/2010 - 07/2003)
2. Gahl, William A: 5 articles (11/2008 - 07/2003)
3. Kleta, Robert: 4 articles (10/2005 - 07/2003)
4. Aula, P: 4 articles (01/2002 - 07/2000)
5. Miyaji, Takaaki: 3 articles (10/2011 - 08/2008)
6. Moriyama, Yoshinori: 3 articles (10/2011 - 08/2008)
7. Omote, Hiroshi: 3 articles (10/2011 - 08/2008)
8. Reimer, Richard J: 3 articles (06/2010 - 01/2005)
9. Reutter, Werner: 3 articles (07/2009 - 09/2005)
10. Verheijen, F W: 3 articles (03/2009 - 06/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Sialic Acid Storage Disease:
1. N-Acetylneuraminic Acid (Sialic Acid)IBA
2. Cytidine Monophosphate (CMP)IBA
3. Uridine Diphosphate (UDP)IBA
4. Uridine Diphosphate N-AcetylglucosamineIBA
5. N-acyl-D-glucosamine 2-epimeraseIBA
6. G(M3) GangliosideIBA
7. Growth Hormone (Somatotropin)IBA
8. Silicon Dioxide (Sand)FDA LinkGeneric
9. GonadotropinsIBA
10. Blood Proteins (Serum Proteins)IBA

Therapies and Procedures

1. Intrauterine Blood Transfusion