Fróðskaparrit - 01.01.1975, Blaðsíða 2

10
Amylo-l,6-glucosidase deficiency
lands (population size about 38.000 in 1970). It was, there-
fore, decided to undertake a thorough investigation of all
patients diagnosed in this region as well as of their families.
It might a priori be expected that many of the cases would be
related as consanguinity is known to be relatively frequent,
and if so more information could be obtained about the range
of variation, clinically and biochemically, seen in carriers of
one and the same mutant gene in the homo- or the heterozygous
condition.
The present report gives, details of a study of 7 probands
with amylo 1,6-glucosidase deficiency and of their relatives.
Family connections were found between 6 of the probands, and
it was likely that the 7th proband was related to the same
family.
Material
The probands comprise all patients in Landssjúkrahúsið (the central
hospital of the Faroe Islands) in Tórshavn who during the period 1955
—70 were found to present amylo-l,6-glucosidase deficiency. Some of
the patients had later on supplementary examinations in the University
Clinic of Copenhagen. In 1972 a very extensive study of the probands
and all available relatives was undertaken, giving a total of 78 examined
individuals.
Methods
All individuals had their medical history taken and were subjected to
a clinical examination in a search for signs of glycogenosis. Blood samples
for biochemical and serological analyses were obtained, and 6 of the pro-
bands had a liver biopsy. The genealogy of the probands was worked out
by interviews, but not supplemented by perusal of public registers, censuses
or the like.
The activity of amylo-l,6-glucosidase in the white and red cells was
determined, by methods to be described, after shipment of the samples to
Marselisborg Hospital, Aarhus.
Isolation of leucocytes and erythrocytes. For the separation of blood
cells 3 ml of a 5 °/o Dextran T 150 (Pharmacia) solution in 0.9 %> NaCl
and 750 ul of a 4 °/o EDTA solution were placed in a piece of plastic
tubing, 32 cm long, inner diameter 10 mm, which was closed at one end
with a rubber stopper. Approximately 20 ml of venous blood was tapped