Abstract:
:A case of hereditary nonspherocytic hemolytic anemia associated with partial erythrocyte PFK deficiency without muscular symptoms is reported: erythrocyte enzyme activity in the propositus was 60% of normal. Kinetic studies of erythrocyte PFK revealed increased sensitivity to ATP inhibition and decreased sensitivity to citrate inhibition. Muscle PFK from the patient had a normal enzymatic activity, but was highly unstable to heat, dilution without stabilizer and urea; furthermore its starch gel electrophoretic mobility was markedly faster than the one of a normal control. The results suggested that a muscle type's subunit was deficient in the erythrocyte PFK. The authors hypothesize that there was no PFK deficiency in the patient's muscle because of the active synthesis of proteins by this tissue. In contrast, the deficiency of PFK would be easily detected in erythrocytes, because of the absence of protein synthesis.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Etiemble J,Kahn A,Boivin P,Bernard JF,Goudemand Mdoi
10.1007/BF00270403keywords:
subject
Has Abstractpub_date
1976-01-28 00:00:00pages
83-91issue
1eissn
0340-6717issn
1432-1203journal_volume
31pub_type
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