PMID- 2942833
OWN - NLM
STAT- MEDLINE
DCOM- 19860922
LR  - 20141120
IS  - 0031-3998 (Print)
IS  - 0031-3998 (Linking)
VI  - 20
IP  - 8
DP  - 1986 Aug
TI  - Infantile sialic acid storage disease: the fate of biosynthetically labeled 
      N-acetyl-(3H)-neuraminic acid in cultured human fibroblasts.
PG  - 773-7
AB  - N-acetyl-(3H)-mannosamine[(3H)-ManNAc] was used as a precursor for the metabolic 
      labeling of N-acetyl-(3H)-neuraminic acid [(3H)-NANA] in cultured fibroblasts of 
      a patient with infantile sialic acid storage disease (ISSD). The metabolic fate 
      of free and bound (3H)-NANA, isolated by high-performance liquid chromatography, 
      was followed under pulse-chase labeling conditions. Nonsaturable accumulation of 
      free (3H)-NANA was observed in ISSD, while the metabolic flux from (3H)-ManNAc to 
      NANA-glycoconjugates was unaffected. Accumulated free (3H)-NANA could not 
      effectively be chased from ISSD cells although N-acetyl-(3H)-hexosamines 
      [(3H)-HexNAc] were appearing in the chase medium. These metabolites could arise 
      from (3H)-NANA bound to glycoconjugates which were cleaved at normal rates in 
      ISSD. The finding that free (3H)-NANA was markedly increased relative to its 
      major products (3H)-HexNAc is suggestive for an impaired degradation and 
      reutilization of (3H)-NANA due to trapping in a metabolically unaccessible pool. 
      In titration experiments with digitonin a clear-cut increase in the latency of 
      labeled NANA relative to a cytoplasmic marker enzyme was evident in ISSD. The 
      release of (3H)-NANA, however, followed closely the digitonin-induced release of 
      the lysosomal enzyme beta-hexosaminidase. This is suggestive for a lysosomal 
      location of the stored material.
FAU - Paschke, E
AU  - Paschke E
FAU - Hofler, G
AU  - Hofler G
FAU - Roscher, A
AU  - Roscher A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Pediatr Res
JT  - Pediatric research
JID - 0100714
RN  - 0 (Sialic Acids)
RN  - EC 1.1.1.27 (L-Lactate Dehydrogenase)
RN  - EC 3.2.1.- (Hexosaminidases)
RN  - EC 3.2.1.52 (beta-N-Acetylhexosaminidases)
SB  - IM
MH  - Biological Transport
MH  - Carbohydrate Metabolism, Inborn Errors/*metabolism
MH  - Cell Compartmentation
MH  - Cells, Cultured
MH  - Fibroblasts/metabolism
MH  - Hexosaminidases/metabolism
MH  - Humans
MH  - In Vitro Techniques
MH  - L-Lactate Dehydrogenase/metabolism
MH  - Sialic Acids/*metabolism
MH  - beta-N-Acetylhexosaminidases
EDAT- 1986/08/01 00:00
MHDA- 1986/08/01 00:01
CRDT- 1986/08/01 00:00
PHST- 1986/08/01 00:00 [pubmed]
PHST- 1986/08/01 00:01 [medline]
PHST- 1986/08/01 00:00 [entrez]
AID - 10.1203/00006450-198608000-00015 [doi]
PST - ppublish
SO  - Pediatr Res. 1986 Aug;20(8):773-7. doi: 10.1203/00006450-198608000-00015.