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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; French Type Sialuria; Infantile Sialic Acid 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: 128 relevant articles (0 outcomes, 9 trials/studies)

Disease Context: Research Results

Related Diseases

1. Sialic Acid Storage Disease (Salla Disease)
2. Mucolipidoses (Sialidosis)
3. Neurodegenerative Diseases (Neurodegenerative Disease)
4. Neuraminidase deficiency with beta-galactosidase deficiency
5. Lysosomal Storage Diseases (Lysosomal Storage Disease)

Experts

1. Huizing, Marjan: 5 articles (01/2016 - 07/2003)
2. Gahl, William A: 5 articles (11/2008 - 07/2003)
3. Reutter, Werner: 4 articles (07/2009 - 06/2004)
4. Kleta, Robert: 4 articles (10/2005 - 07/2003)
5. Aula, P: 4 articles (01/2002 - 07/2000)
6. Bork, Kaya: 3 articles (01/2017 - 09/2005)
7. Horstkorte, Rüdiger: 3 articles (01/2017 - 09/2005)
8. Miyaji, Takaaki: 3 articles (10/2011 - 08/2008)
9. Moriyama, Yoshinori: 3 articles (10/2011 - 08/2008)
10. Omote, Hiroshi: 3 articles (10/2011 - 08/2008)

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. Racemases and Epimerases (Epimerases and Racemases)IBA
4. Uridine Diphosphate (UDP)IBA
5. AcetylglucosamineIBA
6. UDP acetylglucosamine-2-epimeraseIBA
7. Polysaccharides (Glycans)IBA
8. G(M3) GangliosideIBA
9. Growth Hormone (Somatotropin)IBA
10. Silicon Dioxide (Silica)FDA LinkGeneric

Therapies and Procedures

1. Intrauterine Blood Transfusion