Type VII Glycogenosis (Muscle and Erythrocyte Phosphofructokinase Deficiency)

2015 ◽  
pp. 42-47 ◽  
Author(s):  
Seiichiro Tarui ◽  
Norio Kono ◽  
Masamichi Kuwajima ◽  
Yuji Ikura
Keyword(s):  
Phosphofructokinase Deficiency

Autosomal recessive inherited phosphofructokinase deficiency in English springer spaniel dogs

1986 ◽  
Vol 17 (1) ◽  
pp. 15-23 ◽  
Author(s):  
U. GIGER ◽  
M. P. REILLY ◽  
T. ASAKURA ◽  
C. J. BALDWIN ◽  
J. W. HARVEY
Keyword(s):  
Autosomal Recessive ◽  
Phosphofructokinase Deficiency

scholarly journals The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy

Blood ◽  
1980 ◽  
Vol 55 (4) ◽  
pp. 629-635
Author(s):  
S Vora ◽  
L Corash ◽  
WK Engel ◽  
S Durham ◽  
C Seaman ◽  
...  
Keyword(s):  
Molecular Basis ◽  
Direct Evidence ◽  
The Other ◽  
Heterogeneous Mixture ◽  
Muscle Type ◽  
Crossover Point ◽  
Normal Human ◽  
Phosphofructokinase Deficiency ◽  
2,3 Dpg ◽  
Chromatographic Profiles

Normal human erythrocyte phosphofructokinase (ATP:c D-fructose-6, P-1- phosphotransferase, EC 2.7.1.11; PFK) has recently been shown to consist of a heterogeneous mixture of five tetrameric isozymes: M4, M3L, M2L2, ML3, and L4 (M, muscle type; L, liver type). In the light of these findings, we have investigated the molecular basis of the inherited erythrocyte PFK deficiency associated with myopathy and hemolysis (Tarui disease). The propositus, a 31-yr-old male, suffered from muscle weakness and myoglobinuria on exertion. He showed mild erythrocytosis despite laboratory evidence of hemolysis. In his erythrocytes a metabolic crossover point was found at the level of PFK; 2,3-diphosphoglycerate (2,3-DPG) was also significantly reduced. The PFK from the patient's erythrocytes consisted exclusively of the L4 isozyme, and there was a complete absence of the other four. The leukocyte and platelet PFKs from the patient showed normal activities, chromatographic profiles, and precipitation with anti-M4 antibody. These studies provide direct evidence that in Tarui disease the M-type subunits are absent; but the liver- and platelet-type subunits of PFK are unaffected. The paradox of mild erythrocytosis despite hemolysis reflects the decreased production of 2,3-DPG.

scholarly journals First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene

2013 ◽  
Vol 4 ◽  
Author(s):  
Joan-Lluis Vives-Corrons ◽  
Pavla Koralkova ◽  
Josep M. Grau ◽  
Maria del Mar Mañú Pereira ◽  
Richard Van Wijk
Keyword(s):  
Missense Mutation ◽  
Homozygous Missense Mutation ◽  
Phosphofructokinase Deficiency

P5.48 Infantile-onset permanent weakness in muscle phosphofructokinase deficiency

2011 ◽  
Vol 21 (9-10) ◽  
pp. 738-739
Author(s):  
P. Laforet ◽  
M. Piraud ◽  
F. Petit ◽  
J.Y. Hogrel ◽  
N.B. Romero ◽  
...  
Keyword(s):  
Phosphofructokinase Deficiency

Biochemical Studies of Canine Muscle Phosphofructokinase Deficiency

Enzyme ◽  
1988 ◽  
Vol 40 (1) ◽  
pp. 25-29 ◽  
Author(s):  
U. Giger ◽  
A. M. Kelly ◽  
P. S Teno
Keyword(s):  
Biochemical Studies ◽  
Phosphofructokinase Deficiency

scholarly journals Hereditary Nonspherocytic Hemolysis With Erythrocyte Phosphofructokinase Deficiency

Blood ◽  
1972 ◽  
Vol 39 (3) ◽  
pp. 415-425 ◽  
Author(s):  
Larry Waterbury ◽  
Eugene P. Frenkel
Keyword(s):  
Enzyme Activity ◽  
Adenosine Triphosphate ◽  
Lactate Production ◽  
Kinetic Studies ◽  
Glycogen Storage ◽  
Muscle Disease ◽  
Phosphofructokinase Activity ◽  
Phosphofructokinase Deficiency

Abstract Hereditary nonspherocytic hemolysis associated with abnormal erythrocyte phosphofructokinase activity was demonstrated in a young man. Enzyme activity in the propositus, his mother, and maternal grandmother was approximately 60% of normal controls. There was markedly increased lability of enzyme activity on in vitro storage. Kinetic studies revealed increased sensitivity to adenosine triphosphate inhibition. Erythrocyte adenosine triphosphate levels were depressed. The absence of muscle disease and the presence of normal in vivo lactate production following ischemic exercise differentiated this kindred from those with Type VII glycogen storage disease.

Fatal familial infantile glycogen storage disease: Multisystem phosphofructokinase deficiency

1992 ◽  
Vol 15 (4) ◽  
pp. 455-458 ◽  
Author(s):  
Rami Amit ◽  
Nava Bashan ◽  
Jacob M. Abarbanel ◽  
Yehuda Shapira ◽  
Shaul Sofer ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage ◽  
Phosphofructokinase Deficiency
Sign in / Sign up

Export Citation Format

Share Document