SIALIC ACID STORAGE DISEASE, INFANTILE TYPE

Question 1

What is  SIALIC ACID STORAGE DISEASE, INFANTILE TYPE?

Accepted Answer

rare
autosomal recessive
mutation in the SLC17A5 gene
(1) infantile free sialic acid storage disease
(2) intermediate severe Salla disease
(3) Salla disease with normal appearance, mild cognitive dysfunction, and spasticity

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Infantile Sialinsäure-Speicherkrankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 269920

Question 4

Which enzymes are involved?

Accepted Answer

Sialin

Disease	SIALIC ACID STORAGE DISEASE, INFANTILE TYPE
Synonym	INFANTILE SIALIC ACID STORAGE DISORDER
OMIM	269920 OMIM = Online Mendelian Inheritance of Men
Orphanet	309324
Protein (UniProt)	Sialin
Gene locus	6q13
ICD	E77.8
Summary	rare autosomal recessive mutation in the SLC17A5 gene (1) infantile free sialic acid storage disease (2) intermediate severe Salla disease (3) Salla disease with normal appearance, mild cognitive dysfunction, and spasticity
Laboratory findings	Lymphocytes, vacuoles (blood) N-Acetylaspartylglutamate inc (cerebrospinal fluid) Sialic acid/N-Acetylneuraminic acid inc (urine) Sialic acid/N-Acetylneuraminic acid inc (fibroblasts)
Symptoms	ascites cardiomegaly coarse facial features conjunctival biopsy, enlarged lysosomes diarrhea dysmorphism dysostosis multiplex early death edema Electron microscopy [-] epicanthus or medial eyelid fold failure to thrive hair, abnormal (thin, brittle, fine) hepatomegaly (large liver) hernia hydrops fetalis hyperbilirubinemia hypertonia, spasticity hypopigmentation hypotonia mental retardation MRI, brain, abnormalities [-] nephrosis nystagmus onset, fetus onset, infancy onset, neonatal Organic acids, urine prematurity, premature delivery ptosis (drooping eyelid) skin, pigmentation splenomegaly (large spleen) X-ray, abnormalities