PMID- 2363700
OWN - NLM
STAT- MEDLINE
DCOM- 19900808
LR  - 20190501
IS  - 0264-6021 (Print)
IS  - 1470-8728 (Electronic)
IS  - 0264-6021 (Linking)
VI  - 268
IP  - 3
DP  - 1990 Jun 15
TI  - Defective glucuronic acid transport from lysosomes of infantile free sialic acid 
      storage disease fibroblasts.
PG  - 621-5
AB  - Separation by h.p.l.c. and pulsed amperometric detection were employed to measure 
      glucuronic acid (GlcUA) and other acidic monosaccharides in fibroblasts from 
      patients with infantile free sialic acid storage disease (ISSD) and Salla 
      disease. These lysosomal storage disorders result from defective carrier-mediated 
      transport of free N-acetylneuraminic acid (NeuAc) out of cellular lysosomes. 
      Three Salla disease fibroblast strains stored approx. 0.4 nmol of free GlcUA/mg 
      of cell protein, whereas four ISSD strains stored approx. 5 nmol GlcUA/mg (normal 
      is undetectable). The GlcUA content of the mutant cell strains, which by 
      differential centrifugation and Percoll gradient fractionation was localized to 
      the lysosomes, averaged 5% of the free NeuAc content of the cells. 
      N-Glycolylneuraminic acid (NeuGc) also accumulated in ISSD cells, but only when 
      they were grown in the presence of fetal calf serum, which contains abundant 
      NeuGc. No other acidic monosaccharides were detected in any of the mutant cell 
      strains. GlcUA egress studies revealed that 56% of the initial GlcUA content was 
      lost from normal granular fractions after 2 min at 37 degrees C. For similarly 
      loaded ISSD granular fractions, virtually no GlcUA was lost even after 6 min. The 
      results indicate that GlcUA is recognized and transported by the lysosomal NeuAc 
      carrier, and that GlcUA transport is impaired in the lysosomal disorders of free 
      NeuAc storage.
FAU - Blom, H J
AU  - Blom HJ
AD  - Section of Human Biochemical Genetics, National Institute of Child Health and 
      Human Development, National Institutes of Health, Bethesda, MD 20892.
FAU - Andersson, H C
AU  - Andersson HC
FAU - Seppala, R
AU  - Seppala R
FAU - Tietze, F
AU  - Tietze F
FAU - Gahl, W A
AU  - Gahl WA
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Biochem J
JT  - The Biochemical journal
JID - 2984726R
RN  - 0 (Glucuronates)
RN  - 0 (Neuraminic Acids)
RN  - 0 (Sialic Acids)
RN  - 0 (Sugar Acids)
RN  - 1113-83-3 (N-glycolylneuraminic acid)
RN  - 8A5D83Q4RW (Glucuronic Acid)
SB  - IM
MH  - Biological Transport
MH  - Cells, Cultured
MH  - Fibroblasts/metabolism
MH  - Glucuronates/analysis/*pharmacokinetics
MH  - Glucuronic Acid
MH  - Humans
MH  - Lysosomes/*metabolism
MH  - Metabolism, Inborn Errors/genetics/*metabolism
MH  - Mutation
MH  - Neuraminic Acids/analysis/pharmacokinetics
MH  - Sialic Acids/*metabolism
MH  - Sugar Acids/analysis
PMC - PMC1131484
EDAT- 1990/06/15 00:00
MHDA- 1990/06/15 00:01
PMCR- 1990/12/15
CRDT- 1990/06/15 00:00
PHST- 1990/06/15 00:00 [pubmed]
PHST- 1990/06/15 00:01 [medline]
PHST- 1990/06/15 00:00 [entrez]
PHST- 1990/12/15 00:00 [pmc-release]
AID - 10.1042/bj2680621 [doi]
PST - ppublish
SO  - Biochem J. 1990 Jun 15;268(3):621-5. doi: 10.1042/bj2680621.