Fróðskaparrit - 01.01.1975, Page 4

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Amylo-l,6-glucosidase deficiency
The serum proteins and enzymes listed in table II were determined by
conventional methods in the laboratory of the hospital in Tórshavn.
Serological markers were determined in the Blood Group Department
of the University Institute of Forensic Medicine, Copenhagen, and the
HL-A types in the Tissue Typing Laboratory of the University Clinic,
Copenhagen, by the routine methods worked out in these laboratories.
Results
The renewed clinical and biochemical studies o£ the probands
verified the diagnosis in all cases.
Clinical findings. A short summary o£ the case histories of
the probands are given in the following.
Individual V. 105, male, born 1954. Since the age of 2 years pronounced
abdominal distension was observable, caused by enlargement of the liver
which was palpable some centimetres below the umbilical transversal and
extended to the spleen. The boy was clinically without symptoms, and
hypoglycaemic episodes had never been noted in spite of low levels of
fasting blood glucose. At the time of the present investigation (1972) his
liver was only slightly enlarged, reaching 6 cm below the right costal
margin.
Individual V. 107, male, born 1964. This boy had shown abdominal
distension since his birth. At the age of 5 prenounced hepatomegaly was
observed, the liver edge being felt 25 cm below the right costal margin and
reaching to the spleen. His motor development was retarded, and he be-
came easily fatigued and dyspnoeic on exertion. Biochemical studies at
that time indicated moderate liver failure. In 1972, considerable hepa-
tomegaly was found; the liver reached the umbilical transversal and the
spleen. Ten small suggillations were noted in the skin.
lndividual V. 110, male, born 1966. A large abdomen was noted in
this boy when he was born, and when he was 2 years old his liver reached
the umbilical transversal. There were no clinical cymptoms, but biochemical
studies performed at that time revealeđ liver failure and low levels of
fasting plasma glucose. In 1972 he suffered from mild dyspnoea on exertion
and skin bleeding following minor injuries. The liver edge was felt 2 cm
above the umbilical transversal and reached the spleen. Three small suggil-
lations were noted in the skin.
Individual V. 111, female, born 1970; at the age of 10 months this child
passed a routine examination by the family doctor who noted that the
liver filled out »the entire right side of her abdomen«. She presented no