What causes PGK deficiency?
What causes PGK deficiency?
PGK deficiency is caused by mutations in the PGK1 gene (Xq13. 3) and around 20 different disease-causing variants have been identified so far in affected families. PGK is a key enzyme in the glycolytic pathway catalyzing the conversion of 1,3-bisphosphoglycerate into 3-phosphoglycerate and generating ATP.
Why does pyruvate kinase deficiency cause hemolytic anemia?
Pyruvate kinase enzyme breaks down a chemical compound called adenosine triphosphate (ATP). Because this enzyme is deficient, there is a lack of ATP. This leads to dehydration of red blood cells and abnormal red cell shapes. The altered red blood cell has a shortened lifespan leading to hemolytic anemia.
What does phosphoglycerate kinase do?
Phosphoglycerate kinase is a crucial enzyme in the glycolysis cycle. This cycle is a series of ten reactions which ultimately breaks down glucose into pyruvate while generating 2 NADH and 2 ATP molecules.
What process does phosphoglycerate kinase cause?
This gene provides instructions for making an enzyme called phosphoglycerate kinase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy.
What is Phosphofructokinase deficiency?
Phosphofructokinase (PFK) deficiency is a glycogen storage disorder (GSD). It is rare and is inherited as an autosomal recessive disorder. There is a mutation in the gene encoding muscle PFK on chromosome 12. There is also reduced activity of red cell PFK.
What is pyruvate kinase deficiency?
Pyruvate kinase deficiency is an inherited lack of the enzyme pyruvate kinase, which is used by red blood cells. Without this enzyme, red blood cells break down too easily, resulting in a low level of these cells (hemolytic anemia).
Is there a cure for pyruvate kinase deficiency?
Allogeneic hematopoietic stem cell transplantation (HSCT) can cure PK deficiency. This has been pursued in a limited number of individuals, particularly individuals who require chronic blood transfusions.
Is phosphoglycerate kinase regulated?
Phosphoglycerate Kinases Are Co-Regulated to Adjust Metabolism and to Optimize Growth. Plant Physiol. 2018 Feb;176(2):1182-1198.
What type of reaction is 1/3 Bisphosphoglycerate to 3 Phosphoglycerate?
Cytosolic PGK (phosphoglycerate kinase) catalyzes the reversible reaction of 1,3-bisphosphoglycerate and ADP to form 3-phosphoglycerate and ATP.
What disease is caused by lack of muscle phosphorylase?
|Glycogen storage disease type V|
|Other names||McArdle disease, muscle phosphorylase (myophosphorylase) deficiency|
|Muscle biopsy specimen showing vacuolar myopathy: The patient had a type V glycogenosis (McArdle disease)|
What are the symptoms of phosphoglycerate kinase 1 deficiency?
Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations ( Shirakawa et al., 2006 ).
How does PGK1 affect the activity of phosphoglycerate kinase?
During glycolysis, the simple sugar glucose is broken down to produce energy. Mutations in the PGK1 gene reduce the activity of phosphoglycerate kinase, which disrupts energy production and leads to cell damage or cell death.
Are there any cases of PGK deficiency in humans?
Sugie et al. (1994) demonstrated PGK deficiency in 3 unrelated men who presented with myoglobinuria. All 3 were mentally retarded, and 2 had epilepsy. The patient who did not have epilepsy was the only one of the 3 who showed any hemolytic anemia.
What are the mutations in the PGK1 gene?
PGK deficiency is caused by mutations in the PGK1 gene (Xq13.3) and around 20 different disease-causing variants have been identified so far in affected families. PGK is a key enzyme in the glycolytic pathway catalyzing the conversion of 1,3-bisphosphoglycerate into 3-phosphoglycerate and generating ATP.