PMID- 3091919
OWN - NLM
STAT- MEDLINE
DCOM- 19861010
LR  - 20190828
IS  - 0141-8955 (Print)
IS  - 0141-8955 (Linking)
VI  - 9
IP  - 2
DP  - 1986
TI  - Glucose metabolism in fibroblasts from patients with erythrocyte hexokinase 
      deficiency.
PG  - 129-39
AB  - Four different hexokinase (HK) isoenzymes are distributed in different 
      proportions in human tissues. Fibroblasts contain HK type I as the predominant 
      glucose phosphorylating activity, the same isoenzyme that predominates in red 
      blood cells (RBC). We have established cell lines from two patients homozygous 
      for RBC HK deficiency but carrying different mutations. In one case (HK-Melzo) 
      the residual RBC enzyme shows a marked heat instability but possesses normal 
      kinetic and regulatory properties; in the other (HK-Napoli), the enzyme is 
      characterized by an increased Ki for glucose-1,6-diphosphate. These properties 
      are also retained by the fibroblasts' hexokinase. Glucose utilization by cultured 
      fibroblasts from these patients was markedly reduced in the cell lines where HK 
      deficiency was more pronounced. However, cells with only 30% HK activity retained 
      their full ability to utilize glucose in the hexose monophosphate pathway. This 
      was shown to be true not only under basal conditions but also in the presence of 
      oxidative agents such as methylene blue. Significant reduction of the ATP level 
      was also found in HK-Melzo fibroblasts. Thus, HK deficiency is associated with 
      reduced glucose utilization and normal hexose monophosphate shunt rates. Results 
      previously obtained on RBC support similar conclusions.
FAU - Magnani, M
AU  - Magnani M
FAU - Chiarantini, L
AU  - Chiarantini L
FAU - Stocchi, V
AU  - Stocchi V
FAU - Dacha, M
AU  - Dacha M
FAU - Fornaini, G
AU  - Fornaini G
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Inherit Metab Dis
JT  - Journal of inherited metabolic disease
JID - 7910918
RN  - 0 (Glucosephosphates)
RN  - 0 (Isoenzymes)
RN  - 56-73-5 (Glucose-6-Phosphate)
RN  - 8L70Q75FXE (Adenosine Triphosphate)
RN  - DRX17R6AM2 (glucose-1,6-bisphosphate)
RN  - EC 2.7.1.1 (Hexokinase)
RN  - IY9XDZ35W2 (Glucose)
SB  - IM
MH  - Adenosine Triphosphate/metabolism
MH  - Cell Line
MH  - Drug Stability
MH  - Erythrocytes/*enzymology
MH  - Fibroblasts/*enzymology
MH  - Glucose/*metabolism
MH  - *Glucose-6-Phosphate/*analogs & derivatives
MH  - Glucosephosphates/metabolism
MH  - Hexokinase/*deficiency/metabolism
MH  - Hot Temperature
MH  - Humans
MH  - Isoenzymes/*deficiency/metabolism
MH  - Kinetics
MH  - Pentose Phosphate Pathway
EDAT- 1986/01/01 00:00
MHDA- 1986/01/01 00:01
CRDT- 1986/01/01 00:00
PHST- 1986/01/01 00:00 [pubmed]
PHST- 1986/01/01 00:01 [medline]
PHST- 1986/01/01 00:00 [entrez]
AID - 10.1007/BF01799449 [doi]
PST - ppublish
SO  - J Inherit Metab Dis. 1986;9(2):129-39. doi: 10.1007/BF01799449.