Here I present: “Salla Disease”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (SD) 薩拉病。icd10=E77.8
INTRODUCTION.
Salla disease (SD) is an autosomal recessive lysosomal storage disease characterized by early physical impairment and intellectual disability. Salla disease was first reported as a lysosomal storage disorder in a family from northern Finland. Salla refers to the area where the affected family resided. It was first described in 1979, and named after Salla, a municipality in Finnish Lapland and is one of 40 Finnish heritage diseases (shown ABOVE).
Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and impaired intellectual development; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine.
There is evidence that Salla disease (SD) is caused by homozygous or compound heterozygous mutation in the solute carrier type-17A5 (SLC17A5) gene on cytogenetic location 6q13 and genomic coordinates 6:73,593,379-73,653,992 . The screenshot of the SLC17A5 gene 60,614 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides SLC17A5 in the 6q13 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:73,394,828 | DDX43 | DEAD-box helicase 43 |
| 6:73,423,711 | CGAS | Cyclic GMP-AMP synthase |
| 6:73,461,737 | MTO1 | Mitochondrial tRNA translation optimization 1 |
| 6:73,515,750 | EEF1A1 | Eukaryotic translation elongation factor-1, alpha-1 |
| 6:73,593,379 | SLC17A5 | Solute carrier family 17 (sodium phosphate), member 5 |
| 6:73,679,192 | CD109 | CD109 antigen |
| 6:75,084,326 | COL12A1 | Collagen, type XII, alpha-1 |
| 6:75,200,001 | ATFB2 | Atrial fibrillation, familial, 2 |
| 6:75,200,001 | CORD7 | Cone-rod dystrophy 7 |
| 6:75,200,001 | SHFLD2 | Split-hand/foot malformation with long bone deficiency 2 |
