Fróðskaparrit - 01.01.1975, Síða 7

Araylo-l,6-glucosidase deficiency
15
IV
V
□
96
óióáiói
97 98 99 100 101 102 103
□
119
□
104
Fig. lb: Pedigree of the family. Black circle indicates the prohand.
In the parents, the leucocyte activity was on the average
lower than in normal individuals, but the 2 distributions over-
lapped considerably, but were outside the range of values seen
in the patients. The red celles of the heterozygous parents
showed an activity which with one exception coincided with
the distribution observed in the patients.
Liver function was studied in all probands; all of them
except no. V. 105 and V. 118, who were the oldest, gave
evidence of impaired function. Surgical biopsy of the liver
was done in all but one (no. 111) of the patients. The histo-
logical picture indicated glycogen storage disease, but bio-
chemical analyses were only performed in two cases (no. 107
and 116); here no amylo-l,6-glucosidase activity could be
demonstrated in the liver cells.
The glycogen contents of the leucocytes of the probands
and their parents showed values within the normal range.
The ratio between extinction at 460 and 390 nm of the iodine-
glycogen complex was low in leucocyte glycogen from the
patients, indicating the highly branched glycogen structure.
The parents showed no abnormalities in this respect.
The genealogical examination revealed that the mothers of
6 of the probands were related (see pedigree la, b), and at least
one of the fathers was connected with this large family; the
7th proband was, according to the information given by the