by
Dr. Rajneesh Kumar Sharma
The phosphorylase enzyme plays a vital role in the
breakdown of glycogen into glucose. With a deficiency of the liver phosphorylase
enzyme, glycogen cannot be broken down to glucose, and the accumulating glycogen
results in an enlarged liver. A total deficiency of this liver enzyme would not
likely be compatible with life, thus patients with Type VI GSD actually have
only partial deficiency of the enzyme.
Synonyms:
Hers Disease
Liver Phosphorylase Deficiency
This form of glycogen storage disease appears to be similar to, but is usually
considerably milder than glucose-6-phosphatase deficiency GSD (type I GSD).
Extreme enlargement of the liver, growth retardation, and mild hypoglycemia are
seen, but patients can certainly present with few symptoms and be able to lead
normal lives.
The diagnosis of this disease is based on liver biopsy material; assays must be
done for glycogen content (which is increased) as well as for phosphorylase
activity. Phosphorylase activity in the liver tissue is present but reduced.
Due to the mildness of the clinical findings, treatment is usually not required.
Should hypoglycemia and growth failure be a major problem, these patients should
receive the same nutritional management that has been effective in Type I GSD
and Type III GSD.
Dr. Rajneesh Kumar Sharma
Homoeo Cure & Research Centre P. Ltd.
NH 74, Moradabad Road, Kashipur (Uttaranchal) 244713 India
Ph- 05947- 275535, 260327, 274338, 277418
Fax- 274338, 275535; Cells- 98 976 18594, 98 976 21896
Email: drrajneeshhom@hotmail.com,
drrajneshhom@yahoo.co.in