PMID- 12794688
OWN - NLM
STAT- MEDLINE
DCOM- 20040210
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 120A
IP  - 1
DP  - 2003 Jul 1
TI  - Biochemical and molecular analyses of infantile free sialic acid storage disease 
      in North American children.
PG  - 28-33
AB  - The differential diagnosis of developmental delays and growth retardation in 
      early childhood includes the allelic lysosomal sialic acid storage disorders, 
      Salla disease and infantile free sialic acid storage disease (ISSD). These 
      diseases, due to defective free sialic acid transport out of lysosomes, derive 
      from mutations in the SLC17A5 gene coding for the protein sialin. We present two 
      patients with clinical, biochemical, and molecular data indicative of lysosomal 
      free sialic acid storage disorders. One patient, with a severe clinical course 
      typical of ISSD, had 86-fold elevated levels of fibroblast free sialic acid, with 
      62% in the lysosomal fraction. His SLC17A5 mutations include a 148-bp deletion of 
      exon 9, due to a G >A splice site mutation in position 1 of intron 9, and a 15-bp 
      deletion (del 801-815) in exon 6. Another patient, with "intermediate severe" 
      Salla disease, had 9-fold elevated levels of free sialic acid in cultured 
      fibroblasts, of which 87% resided in the lysosomal fraction. This girl is 
      compound heterozygous for the SLC17A5 mutation commonly found in Finnish Salla 
      disease patients (R39C) and a 15-bp deletion found in ISSD patients (del 
      801-815). These observations emphasize the importance of considering free sialic 
      acid disorders in infants with developmental delays and growth retardation, 
      regardless of whether they are of Finnish ancestry.
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - Kleta, Robert
AU  - Kleta R
AD  - Section on Human Biochemical Genetics, Heritable Disorders Branch, National 
      Institute of Child Health and Human Development, National Institutes of Health, 
      10 Center Drive, Building 10 Room 10C-103, Bethesda, MD 20892-1851, USA.
FAU - Aughton, David J
AU  - Aughton DJ
FAU - Rivkin, Michael J
AU  - Rivkin MJ
FAU - Huizing, Marjan
AU  - Huizing M
FAU - Strovel, Erin
AU  - Strovel E
FAU - Anikster, Yair
AU  - Anikster Y
FAU - Orvisky, Eduard
AU  - Orvisky E
FAU - Natowicz, Marvin
AU  - Natowicz M
FAU - Krasnewich, Donna
AU  - Krasnewich D
FAU - Gahl, William A
AU  - Gahl WA
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
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  - Child, Preschool
MH  - DNA Mutational Analysis
MH  - Diagnosis, Differential
MH  - Exons
MH  - Facies
MH  - Female
MH  - Fibroblasts/metabolism
MH  - Heterozygote
MH  - Humans
MH  - Infant
MH  - Introns
MH  - Lysosomes/metabolism
MH  - Male
MH  - Molecular Sequence Data
MH  - Mutation
MH  - N-Acetylneuraminic Acid/metabolism
MH  - Organic Anion Transporters/genetics
MH  - Polymerase Chain Reaction
MH  - Sialic Acid Storage Disease/*genetics/*metabolism
MH  - Subcellular Fractions
MH  - Symporters/genetics
EDAT- 2003/06/10 05:00
MHDA- 2004/02/11 05:00
CRDT- 2003/06/10 05:00
PHST- 2003/06/10 05:00 [pubmed]
PHST- 2004/02/11 05:00 [medline]
PHST- 2003/06/10 05:00 [entrez]
AID - 10.1002/ajmg.a.20024 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2003 Jul 1;120A(1):28-33. doi: 10.1002/ajmg.a.20024.