[Autoimmune hemolytic anaemia in childhood. Review and report of one case (author's transl)].

Autoimmune hemolytic anaemia (AIHA) in childhood is associated with antibodies produced by the patient himself, which coat his red cells causing their hemolysis. Although in some cases no underlying disease could be found, in the majority of children a virus etiology is apparent. There are very few reports regarding the use of treatment with immunsuppressive agents and the possible benefit.

Cataract in a fetus at risk for oculo-cerebro-renal syndrome (Lowe).

A high-risk pregnancy for X-linked recessive inherited Lowe's syndrome was terminated due to a male karyotype in the cultured amniotic fluid cells. The eyes of the male fetus showed specific cataracteous changes of the lens. A posterior lenticonus was due to a defect of the lens capsule.

The treatment of intractable diarrhea by the method of "Baustein" principle using a casein hydrolisate.

Ten infants with intractable diarrhea, celiac disease and small bowel resection were treated with a special dietetic regimen called "Baustein" principle. The three major food constituents were added to the formula stepwise: first glucose and maltodextrin followed by protein and vegetable oil or MCT oil. The protein source was a newly developed casein hydrolisate also containing minerals, trace elements and vitamins.

A method for galactose-1-phosphate uridyltransferase assay and the separation of its isozymes by DEAE-cellulose column chromatography.

A simplified radioactive assay for galactose-1-phosphate uridyltransferase (EC 2.7.7.

The influence of phenobarbital on carbohydrate metabolism in developing rat liver.

The influences of phenobarbital (PB) on enzymes of the carbohydrate metabolism in rat liver are examined during pre- and postnatal development. The following results are obtained: (1) PB generally increases G-6-Pase before and after birth. (2) Both the active and the inactive forms of phosphorylase are increased significantly during the prenatal periods.

Galactosemia with endogenous production of galactose-1-phosphate and with cystic fibrosis-like appearance at autopsy.

In an infant with galactosemia high levels of galactose-1-phosphate in red blood cells and of blood galactose were observed under a "galactose-free'' diet. The child did not thrive and developed a liver cirrhosis. At the age of 5 months he died unexpectedly.

[Congenital enzyme deficiency in carbohydrate metabolism. Its significance for clinical pediatrics and human biochemical genetics (author's transl)].

A review of the enzyme deficiencies of carbohydrate metabolism known at the present time is given. Through prominent clinical symptoms and consideration of food as a pathological agent, it is possible to suspect the various diseases before the results of the biochemical determinations are available. On account of the sometimes striking course, therapy can consequently be started at the earliest possible moment.

Incidence of glycogen storage disease in the German Federal Republic.

100 cases of GSD were traced in the GFR. The overall incidence is 1:113000 in proportion to live births. Type I occurs most frequently with 30%, followed by Type II and Type VI with 20% each.