Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency.
Phosphoglycerate kinase (PGK) deficiency is associated with hereditary haemolytic anaemia and often with central nervous system dysfunction and/or myopathy. Twenty-three families have been discovered with this condition. Nine have manifested both symptoms, six only haemolysis, and seven central nervous system dysfunction and/or myopathy without haemolysis; one case is asymptomatic. Among them, the structural abnormalities of 14 mutants, including 11 missense mutations, 1 gene deletion, 1 gene insertion, and 1 splicing mutation, have been identified. The correlation between the phenotypic and structural differences in PGK deficiency remains to be defined. Splenectomy obviates transfusion in most patients but does not correct the haemolytic disorder. Phosphofructokinase (PFK) deficiency is associated with myopathy and/or haemolysis. More than half reported had the typical features of glycogen storage disease type VII (Tarui disease). The other cases exhibited myopathy alone, haemolytic anaemia alone, or no clinical symptom at all. Eight missense, 1 nonsense, 1 frameshift and 5 splicing mutations have been determined in the PFK-M gene. In classic PFK-M deficiency, the avoidance of undue exertion is the key to prevent muscle symptoms.
Fujii
H
H
Department of Blood Transfusion Medicine, Tokyo Women's Medical University, Japan.
Miwa
S
S
D000745:Anemia, Hemolytic, Congenital / Q000201:enzymology / Q000235:genetics / Q000628:therapy; D000818:Animals; D004912:Erythrocytes / Q000201:enzymology*; D006801:Humans; D008958:Models, Molecular; D015394:Molecular Structure; D009154:Mutation; D010732:Phosphofructokinase-1 / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics; D010735:Phosphoglycerate Kinase / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics
D010732:Phosphofructokinase-1; D010735:Phosphoglycerate Kinase