PMID- 15172001
OWN - NLM
STAT- MEDLINE
DCOM- 20050113
LR  - 20161124
IS  - 1096-7192 (Print)
IS  - 1096-7192 (Linking)
VI  - 82
IP  - 2
DP  - 2004 Jun
TI  - Clinical, biochemical, and molecular diagnosis of a free sialic acid storage 
      disease patient of moderate severity.
PG  - 137-43
AB  - The allelic autosomal recessive lysosomal storage disorders Salla disease and 
      infantile free sialic acid storage disease (ISSD) result from mutations in 
      SLC17A5. This gene codes for sialin, a lysosomal membrane protein that transports 
      the charged sugar, N-acetylneuraminic acid (sialic acid), out of lysosomes. ISSD 
      has a severe phenotype with infantile onset, while the Finnish variant, Salla 
      disease, has a milder phenotype with later onset. Both disorders cause 
      developmental delay, and ISSD is generally fatal in early childhood. We describe 
      a 30-month old non-Finnish, Caucasian child with global developmental delay of 
      postnatal onset, language, and motor skills stagnant at a 3-4 month level, 
      hypotonia, and mild but progressive coarsening of facial features. Urinary 
      excretion of free sialic acid was elevated 4.5 times above control. EM of a skin 
      biopsy revealed enlarged secondary lysosomes consistent with oligosaccharide 
      storage. Free sialic acid in fibroblasts was 3.8+/-0.9 nmol/mg protein 
      (concurrent normal controls, 0.5+/-0.1); differential centrifugation indicated a 
      lysosomal location. Genomic analysis revealed compound heterozygosity for two new 
      SLC17A5 mutations. This child's clinical manifestations of a lysosomal free 
      sialic acid storage disease are consistent with her sialin mutations and 
      biochemical findings. The differential diagnosis of postnatal developmental delay 
      should include free sialic acid storage disorders such as ISSD and Salla disease.
FAU - Kleta, Robert
AU  - Kleta R
AD  - Department of Pediatrics, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA. 
      kletar@mail.nih.gov
FAU - Morse, Richard P
AU  - Morse RP
FAU - Orvisky, Eduard
AU  - Orvisky E
FAU - Krasnewich, Donna
AU  - Krasnewich D
FAU - Alroy, Joseph
AU  - Alroy J
FAU - Ucci, Angelo A
AU  - Ucci AA
FAU - Bernardini, Isa
AU  - Bernardini I
FAU - Wenger, David A
AU  - Wenger DA
FAU - Gahl, William A
AU  - Gahl WA
LA  - eng
GR  - DK38795/DK/NIDDK NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Mol Genet Metab
JT  - Molecular genetics and metabolism
JID - 9805456
RN  - 0 (Organic Anion Transporters)
RN  - 0 (Symporters)
RN  - 0 (sialic acid transport proteins)
RN  - GZP2782OP0 (N-Acetylneuraminic Acid)
SB  - IM
MH  - Base Sequence
MH  - Brain/diagnostic imaging
MH  - Child, Preschool
MH  - DNA Mutational Analysis
MH  - Exons/genetics
MH  - Female
MH  - Fibroblasts
MH  - Humans
MH  - Infant
MH  - Lysosomes/ultrastructure
MH  - Male
MH  - N-Acetylneuraminic Acid/analysis/urine
MH  - Organic Anion Transporters/genetics
MH  - Radionuclide Imaging
MH  - Sialic Acid Storage Disease/*diagnosis/genetics/metabolism/*physiopathology
MH  - Skin/ultrastructure
MH  - Symporters/genetics
EDAT- 2004/06/03 05:00
MHDA- 2005/01/14 09:00
CRDT- 2004/06/03 05:00
PHST- 2004/02/09 00:00 [received]
PHST- 2004/03/15 00:00 [revised]
PHST- 2004/03/15 00:00 [accepted]
PHST- 2004/06/03 05:00 [pubmed]
PHST- 2005/01/14 09:00 [medline]
PHST- 2004/06/03 05:00 [entrez]
AID - S1096719204000940 [pii]
AID - 10.1016/j.ymgme.2004.03.001 [doi]
PST - ppublish
SO  - Mol Genet Metab. 2004 Jun;82(2):137-43. doi: 10.1016/j.ymgme.2004.03.001.