Hepatic phosphorylase deficiency: A biochemical study

Use of platelets, mononuclear and polymorphonuclear cells in the diagnosis of glycogen storage disease type VI

“…These variations according to cellular type and subject's age might explain why, in some GSD VI patients, the liver phosphorylase deficiency could not be clearly distinguished in total leukocytes (Drummond et al, 1970). Thus, unlike the authors who analysed only total leukocytes (Williams and Field, 1961;Koster et al, 1973), we always found a glycogen accumulation in patients with GSD in the three cellular types (about two to four times control values) ( Figure 1A, Table 2). In patients with GSD VI, 'a+b' phosphorylase activity is always diminished (less than 40% of control values).…”

“…(1) most of the authors use total leukocytes and do not state precisely the age of their controls (HiJlsmann et aL, 1961;Williams and Field, 1961;Huijing, 1968;Wagner et al, 1971;Guibaud and Mathieu, 1972;Koster et al, 1973);…”

“…In contrast, the diagnosis of GSD VI needs a liver biopsy (Hug et al, 1974). Activity in total leukocyte samples was proposed for the diagnosis of GSD VI (Williams and Field, 1961;Hfilsmann et al, 1961;Koster et al, 1973) but this has not always proved possible (Drummond et al, 1970). However, a wide range of normal values was found by others (Williams and Field, 1961;Guibaud and Mathieu, 1972) and differences between polymorphonuclear and lymphocytes phosphorylase activities were reported by Gella et al (1978).…”

The glycogen storage diseases

“…Recently Mathieu, Collombel, and Cotte (1972) have indicated that these cells from patients with type VI do not show low phosphorylase activity. Koster, Fernandes, Slee, van Berkel, and Hulsmann (1973) have reported a biochemical study on the hepatic phosphorylase deficiency, and have put forward diagnostic procedures for the differential diagnosis of phosphorylase and phosphorylase kinase deficiency. TYPE VII (MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY) Tarui, Okuno, Ikura, Tanaka, Suda, and Nishikawa (1965) first described this glycogenosis which, while resembling type V very closely in its clinical features, nevertheless is associated with a total lack of muscle phosphofructokinase (the key enzyme of glycolysis), and with an elevation of glycogen in muscle.…”

Hepatic phosphorylase deficiency: Its differentiation from other hepatic glycogenoses

“…4) procedure, enzyme assays of the leucocytes and of liver tissue obtained by needle biopsy were performed. The results are given in the Table. They have been described elsewhere (Koster et al, 1973). Both children were diagnosed as having a phosphorylase-deficient liver glycogenosis.…”