Erythrocyte pyruvate kinase deficiency: characterization of a new variant (PK "Aarau").
Blut
; 48(3): 123-9, 1984 Mar.
Article
em En
| MEDLINE
| ID: mdl-6697002
ABSTRACT
A new PK variant with moderate hemolytic anemia is described. The enzymes of the nonanemic parents show sigmoidal reaction kinetics, with normal kinetic parameters, but differ with respect to nucleotide specificity, thermostability, and the concentrations of the glycolytic intermediates in the erythrocytes. The most characteristic features of the patient's (daughter) enzyme are a 30% activity, hyperbolic reaction kinetics and only two bands in the SDS-gel electrophoresis instead of three bands observed with the parental enzymes. Moreover, the pH-optimum is shifted to the acidic range, the affinity for PEP and ADP is decreased, ATP inhibition is negligible and FDP-activation is roughly ten times smaller than with controls. The concentrations of 2,3-DPG, 2-PG and PEP in the erythrocyte are increased, but ATP decreased. As there is no consanguinity in the parents and their enzymes are different this PK mutant can be considered to be compound-heterozygous for two different mutant PK alleles.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Piruvato Quinase
/
Variação Genética
/
Eritrócitos
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Blut
Ano de publicação:
1984
Tipo de documento:
Article