Fróðskaparrit - 01.01.1975, Page 6

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Amylo-1,6-glucosidase deficiency
clinical symptoms, but laboratory analyses revealed a low fasting plasma
glucose and severe liver failure. At the examination in 1972 it was found
that the liver was palpable 1 cm below the umbilical transversal and
reached the spleen, but she was still without clinical symptoms.
Individual V. 114, female, born 1959. At the age of one year enlarge-
ment of the liver and spleen was noted, but no clinical manifestations
were reported apart from fracture of the left tibia in 1962 and of the right
femur in 1965; furthermore, abnormal fatigability was conspicuous. In
1972 the liver was slightly increased, being palpable 5 cm above the
umbilical transversal, whereas the size of the spleen was within normal
limits.
Individual V. 116, male, born 1961, presented a pronounced hepa-
tomegaly at an examination when he was 10 months old, and biochemical
studies revealed liver failure. Clinically there had been a few hypogly-
caemic episodes, mild haemorrhagic diathesis in the form of skin bleedings
and prolonged bleeding following tooth extractions and injuries of the
skin. In 1968 his left tibia had been fractured. In 1972 his liver was
palpable 4 cm above the umbilical transversal; no skin bleeding was
noted.
Individual V. 118, female, born 1953, showed a considerable hepatome-
galy at the age of one year, the liver edge being felt some cm below thc
umbilical transversal. Her motor development was somewhat retarded,
but otherwise she was clinically normal, and the liver function was only
slightly reduced. At the examination in 1972 the size of the liver was
normal.
None of the other family members examined showed any
clinical signs of glycogen storage disease.
Biochemical findings. The study of amylo-l,6-glucosidase
activity in the blood cells revealed that transportation of the
blood samples from Tórshavn to Aarhus caused only in-
significant reduction of the values observed in the leucocytes
whereas the erythrocyte enzyme activity decreased to approx-
imately 20 % of normal values.
The patients presented very little or no enzyme activity in
their leucocytes. Some activity was demonstrable in their
erythrocytes although all values were below what was seen in
controls (cf. table I).