Clinical and biochemical findings before and after portacaval shunt in a girl with type Ib glycogen storage disease.

Abstract:

:A girl presented with an important growth retardation, hepatomegaly, fasting hypoglycemia, lactic acidosis, increased serum cholesterol, triglycerides and uric acid, and increased liver glycogen (7.5%). There was no rise in blood glucose after IV galactose or fructose, but glucagon gave a delayed response. Type Ib glycogen storage disease was suggested by the low normal activity of glucose-6-phosphatase (G-6-Pase) which reached 1.8 units/g (normal, 2 to 10 units/g) and the normal activity of other glycogenolytic enzymes, measured in homogenates prepared in H2O (mean +/- S.E. in control subjects: 59% +/- 7; in type Ia GSD: 92% +/- 3). The activity of G-6-Pase measured as described above increased to 3.8 units/g of liver 1 year after PCS and 7.85 units/g of liver after 3 years. At that time, a simultaneous assay of the enzyme in a fresh, previously not frozen liver biopsy, homogenized in 0.25 M sucrose, revealed only about 29% of the activity of the same sample prepared in H2O (mean +/- S.E. in three controls: 95.8% +/- 8.9.

journal_name

Pediatr Res

journal_title

Pediatric research

authors

Corbeel L,Hue L,Lederer B,De Barsy T,Van den Berghe G,Devlieger H,Jaeken J,Bracke P,Eeckels R

doi

10.1203/00006450-198101000-00014

subject

Has Abstract

pub_date

1981-01-01 00:00:00

pages

58-61

issue

1

eissn

0031-3998

issn

1530-0447

journal_volume

15

pub_type

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