A New Variant of Glycogen Storage Disease

Phosphorylase kinase in leukocytes and erythrocytes of a patient with glycogen storage disease type IX

“…Indeed, measurement of the endogenous activation of the patient's leukocyte PK in the presence of ATP (Figure 3) showed negligible activity as compared to control leukocytes. The normal V~,ax of PK in A.A.'s leukocytes with normal Km for phosphorylase b is ~aot in accordance with previous cases of PK deficiency as reported (Huijing, 1970;Lederer et aI., 1975;Lerner et al, 1982). It would seem that here we are dealing with a different mutant in which in vivo PK is inactive in leukocytes as well as in erythrocytes.…”

Hepatomegaly Following Short‐Term High‐Dose Steroid Therapy

“…The biop sies of the presen tly reported patients showed that the liver enlargement was due mainly to hepatocytic accumulation of metachromatic material , which was confirmed to be glycogen by electro n microscopy. The light and electron microscopic findings were similar to those of glycogen storage diseases with moderate accumulation of glycogen particles (6,14) and were different from those of aspirin hepatotoxicity dur ing rheumatic fever (15). Although no biochemical quantitation of glycogen was available, the morphological findings were quite typical of its accumulation.…”

Understanding Glycogen Storage Disease Type IX: A Systematic Review with Clinical Focus—Why It Is Not Benign and Requires Vigilance

“…This form of glycogenosis can mimic both hepatic glycogenosis types I and III, being characterized by the early onset in early childhood of hepatomegaly, altered lipid balance, and growth retardation [ 52 , 127 ].…”