One of the mildest form of the glycogenoses. It is
characterized by hepatomegaly, growth retardation, elevation of
glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase,
hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis.
Hepatic (or Liver) Phosphorylase Kinase Deficiency;
Phosphorylase Kinase Deficiency of Liver; Phosphorylase Kinase-Deficient
Liver Glycogenosis; Glycogenosis type VIII.
[NB: Also classified as GSD type VIa. GSD type IX is a variant of the
recessive form of defective enzyme without brain involvement.]
Fewer than 10 cases have been reported, but it may be underdiagnosed
because it is often asymptomatic and, when symptomatic, often classified as
X-linked recessive (GSD VIII) and autosomal
recessive (GSD IX) types described. Gene map loci are Xp22.2-p22.1 (GSD
VIII) and 16q12-q13 (GSD IX).
Deficiency of liver phosphorylase kinase, which is
required to activate liver phosphorylase. Protein phosphorylation is a major
mechanism of signal transduction.
Clinical finding of hepatomegaly. Enzyme deficiency on liver biopsy.
Massive hepatomegaly in infancy that may regress
later in life. Otherwise, children are normal and prognosis is good.
Anesthetic management has not been described.
If hepatomegaly is significant, functional residual capacity of the lungs may be reduced.
Proper preoxygenation would be recommended.
Case reports exist where hepatomegaly finally progressed to liver cirrhosis and formation
of a hepatocellular adenoma.
No agents specifically
Other glycogen storage diseases.
Burwinkel B, Tanner MS, Kilimann MW: Phosphorylase kinase deficient liver
glycogenosis: Progression to cirrhosis in infancy associated with PHKG2
mutations (H144Y and L225R). J Med Genet
Shiomi S, Saeki J, Kim K, et al: A female case of type VIII glycogenosis who developed
cirrhosis of the liver and hepatocellular tumor. Gastroenterol Jpn