SALLA DISEASE

Question 1

What is  SALLA DISEASE?

Accepted Answer

rare (~ 90 cases, 1:7000 northern Finland)
autosomal recessive
mutation in the SLC17A5 gene
Sialic acid storage diseases:
- severe infantile form (ISSD, OMIM 269920)
- slowly progressive(Salla disease, OMIM 604369)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Salla-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 604369

Question 4

Which enzymes are involved?

Accepted Answer

Sialin

Disease	SALLA DISEASE
Synonym	SIALURIA, FINNISH TYPE
OMIM	604369 OMIM = Online Mendelian Inheritance of Men
Orphanet	309334
Protein (UniProt)	Sialin
ExPASy	---
Gene locus	6q13
ICD	E77.8
Summary	rare (~ 90 cases, 1:7000 northern Finland) autosomal recessive mutation in the SLC17A5 gene Sialic acid storage diseases: - severe infantile form (ISSD, OMIM 269920) - slowly progressive(Salla disease, OMIM 604369)
Laboratory findings	N-Acetylaspartylglutamate inc (cerebrospinal fluid) Sialic acid/N-Acetylneuraminic acid inc (urine) Sialic acid/N-Acetylneuraminic acid inc (fibroblasts)
Symptoms	ataxia athetosis coarse facial features defect of walking, running, rising or climbing developmental delay dysarthria EEG abnormalities [-] growth retardation, poor growth hepatomegaly (large liver) hernia hypertonia, spasticity hypotonia mental retardation motor retardation MRI, brain, abnormalities [-] normal at birth nystagmus onset, childhood onset, infancy seizures speech development, delayed, abnormal