Glycogenosis due to liver and muscle phosphorylase kinase deficiency.

Abstract:

:A four-year-old Israeli Arab boy was found to have glycogen accumulation in both liver and muscle without clinical symptoms. Liver phosphorylase kinase (PK) activity was 20% of normal, resulting in undetectable activity of phosphorylase a. Muscle PK activity was about 25% of normal, resulting in a marked decrease of phosphorylase a activity. Two sisters showed a similar pattern, whereas one brother had normal PK activity. The patient's liver protein kinase activity was normal Addition of exogenous protein kinase did not affect PK activity, whereas exogenous PK restored phosphorylase activity to normal. These findings indicate that these patients are affected by a rare variant of PK deficiency, which involves both muscle and liver and which apparently is not sex linked. It is possible that this defect represents an unusual mutation of a subunit of the phosphorylase kinase enzyme.

journal_name

Pediatr Res

journal_title

Pediatric research

authors

Bashan N,Iancu TC,Lerner A,Fraser D,Potashnik R,Moses SW

doi

10.1203/00006450-198104000-00002

subject

Has Abstract

pub_date

1981-04-01 00:00:00

pages

299-303

issue

4 Pt 1

eissn

0031-3998

issn

1530-0447

journal_volume

15

pub_type

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