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Triose phosphate isomerase deficiency: Report of a family
Author(s) -
CLARK ARTHUR C. L.,
SZOBOLOTZKY MARGARET A.
Publication year - 1986
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.1986.tb00205.x
Subject(s) - medicine , triosephosphate isomerase , isomerase , enzyme , enzyme deficiency , endocrinology , pediatrics , biochemistry , chemistry
Triose phosphate isomerase (TPI) deficiency is associated with a syndrome of congenital non‐spherocytic haemolytic anaemia, mental subnormality, motor impairment, growth failure and cardiac failure. The deficiency state is characterized by moderately reduced red cell TPI activity, and marked instability of the abnormal enzyme to heat. The clinical features of an affected child are described, and some problems in the laboratory diagnosis delineated.