Glycogen storage disease Ib: modification of alpha 1-antitrypsin glycoprotein microheterogeneity.

Upon isoelectric focusing, alpha 1-antitrypsin shows a characteristic major band pattern caused by glycoprotein isoforms with different oligosaccharide side chains. In ten apparently healthy individuals with the Pi type MM the ratio of isoforms I, II, and III was 5.2:3.9:1.0. In six patients with glycogen storage disease Ib the ratio of isoforms in the Pi type MM was 3.6:5.5:1.9 suggesting a shift from the biantennary to triantennary oligosaccharide side chains. This shift may result from the limited availability of glucose or glucose derivatives for the synthesis of N-glycosidic glycoproteins.

[Cerebral hemorrhage in a 4-week-old infant with homozygous alpha 1-antitrypsin deficiency]. / Zerebrale Blutung bei einem 4 Wochen alten Säugling mit homozytogem alpha 1-Antitrypsinmangel.

Heavy intracranial hemorrhage was found in a 4-week-old fully breast-fed infant. This was caused by severe hypoprothrombinemia following cholestatic hepatopathy with inborn alpha 1-antitrypsin deficiency of the ZZ type. When Pi type analysing the rest of the family another ZZ type was found among the 3 children of the clinically healthy parents.

[The HbA1c-determination with the aid of isoelectrofocusing method in the out patient control of juvenile diabetics (author's transl)]. / Die HbA1c-Bestimmung mit der Methode der Isoelektrofokussierung in der ambulanten Uberwachung juveniler Diabetiker.

In juvenile diabetics treated on an outpatient basis, the HbA1c value was determined by means of isoelectric focusing. This method proved to be relatively simple and reproducible. Approximately 24 samples can be examined simultaneously after capillary withdrawal. The following correlations were found: 1. with the average urinary glucose excretion - a) measured by the clinitest method, measurement being effected several times daily over a period of 4 weeks (R = 0.5063), as well as b) with the 24-hour urinary glucose excretion of the day of withdrawal, 4 weeks, 8 weeks and 12 weeks previously. Best agreement was found between the HbA1c value and the sum of urinary glucose excretion on the day of withdrawal, 4 weeks and 8 weeks previously (correlation coefficient R = 0.6022). 2. a relationship was also found in the current blood sugar levels (correlation coefficient R = 0.5061). The results are discussed with regard to the significance of the HbA1c measurement.