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Biochemical diagnosis of Type 1b glycogen storage disease
Author(s) -
HAWKINS R. A.,
KAMATH K. R.,
DORNEY S. F. A.,
ADAMS A.
Publication year - 1984
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.1440-1754.1984.tb00082.x
Subject(s) - medicine , glycogen storage disease , glycogen storage disease type i , disease , intensive care medicine , pathology
Abstract A child with the classical signs and symptoms of Type 1 glycogen storage disease is presented who on investigation was shown to have a recently described variant of this disease known as Type 1b glycogen storage disease. A reliable and simple procedure for the diagnosis and differentiation of Types 1 and 1b glycogen storage disease is described, as the conventional diagnostic approach of assaying glucose‐6‐phosphate phosphohydrolase in frozen tissue will not diagnose Type 1b glycogen storage disease. A portion of biopsy tissue should be maintained at a temperature near 0°C (but not frozen) and the remainder frozen. Glucose‐6‐phosphate phosphohydrolase assays are carried out on the tissue homogenates of both portions. In Type 1 glycogen storage disease, glucose‐6‐phosphate phosphohydrolase activity will be tow or absent in both frozen and unfrozen tissues. In Type 1b glycogen storage disease the frozen tissue homogenate will exhibit normal glucose‐6‐phosphate phosphohydrolase activity due to the disruption of the microsomes by tee crystals, white in the unfrozen tissue low levels of glucose‐6‐phosphate phosphohydrolase activity will be detected.