Sialic Acid Storage 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

Nervous System Diseases: 14737
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Nervous System Lysosomal Storage Diseases
        Sialic Acid Storage Disease: 128
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Nervous System Lysosomal Storage Diseases
        Sialic Acid Storage Disease: 128
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sialic Acid Storage Disease: 128
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Nervous System Lysosomal Storage Diseases
        Sialic Acid Storage Disease: 128
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sialic Acid Storage Disease: 128
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sialic Acid Storage Disease: 128

Martin Hoskings Selected Research

Martin Hoskings Research Topics

Disease

Drug/Important Bio-Agent (IBA)