Section 15 — Human Genetics 



being 21.7 years and the female relatives 36.3 

 years. No differences in mean values and mean 

 age could be found between the male relatives 

 who stayed normal during the period of follow- 

 up and those who became hyperuricemic. 



On a NATO Science Fellowship supported by 

 a grant of the Netherlands Organization for the 

 Advancement of Pure Research (Z.W.O.). 



15.59. Carbohydrate-Induced Hyperlipemia in Child- 

 hood. S. Jakovcic and David Yi-Yung-Hsia 

 (Chicago, U.S.A.). 



The present paper will describe the biochemical 

 studies undertaken in a hyperlipemic family, 

 where 3 of 13 children are affected. The parents 

 of these children are second cousins. 



The children were first placed on a high 

 carbohydrate diet containing 15 per cent protein, 

 10 per cent fat and 75 per cent carbohydrate. 

 During this period the triglycerides increased 

 from 1670 to 2700 mg per cent and the lipo- 

 protein lipase remained low with levels of 0.07- 

 0.13 uEq/ml/min. They were then placed on a 

 high fat diet containing 15 per cent protein, 

 40 per cent fat (half corn oil and half cream), 

 and 45 per cent carbohydrate. During this 

 period, the triglycerides decreased from 2700 to 

 605 mg per cent and the lipoprotein lipase reverted 

 to normal levels of 0.22-0.33 nEq/ml/min. These 

 data indicate that the children had hyperlipe- 

 mia of the carbohydrate-induced variety and 

 not of the fat-induced type. Heparin sensitivity 

 was also tested and all three siblings showed 

 more than 25 per cent of clearing of the serum 

 measured as triglycerides in mgm. per cent. 



Plasma from the affected children were se- 

 parated by ultracentrifugation into the chylo- 

 microns (< 1.006), the low density lipopro- 

 teins (< 1.019) and the low density lipoproteins 

 (1.019-1.063). Each of the fractions were ana- 

 lyzed for triglycerides, phospholipids and 

 cholesterol. 



Finally, studies were carried out on the parents 

 and unaffected siblings. While all showed lipo- 

 protein lipase within the normal range, both 

 parents showed delayed clearing of triglyce- 

 rides up to 24-48 hr after a 90 g fat meal. 



15.60. A Dual Hereditary Red Cell Defect in One 

 Family: Hypocatalasemia and Glucose-6- Phos- 

 phate Dehydrogenase Deficiency. A. Szeinberg, 

 A. De Vries, J. Pinkhas, M. Djaldetti and 

 R. Ezra (Tel Aviv, Israel). 



Severe hemolytic anemia with sulfhemoglobi- 

 nemia developed in an Iranian Jew following 

 contact with a fungicide-zinc ethylene bisdithio- 

 carbamate. The previous history of the patient 

 and his family history did not reveal hemolytic 

 occurrences. Examination of his red blood cells 

 demonstrated a fully expressed deficiency of 

 glucose-6-phosphate dehydrogenase (G6PD), as 

 well as a severe hypocatalasemia (about 8 per 

 cent of mean normal catalase activity). 



Investigation of members of three generations 

 in this family suggested that the two enzymatic 

 defects were transmitted independently. The 

 hereditary pattern of the catalase deficiency was 

 compatible with transmission by an autosomal 

 gene of intermediate dominance. In the homozy- 

 gous state (the propositus) the abnormality 

 resulted in severe hypocatalasemia, but not in 

 complete absence of this enzyme. The presence 

 of slight catalase activity in his red cells was 

 confirmed by starch gel electrophoresis followed 

 by specific staining. The heterozygous state 

 was characterized by intermediate hypocatalase- 

 mia (50-65 per cent of mean normal catalase 

 activity). Such intermediate catalase activity was 

 detected in all the children of the propositus as 

 well as in several other members of the family 

 both in those with normal G6PD and with G6PD 

 deficiency. No difference in the degree of hypo- 

 catalasemia was observed between those two 

 groups of subjects heterozygous for catalase 

 deficiency, suggesting absence of interaction 

 between these two enzymatic defects. 



These investigations were supported in part by 

 grants from the U.S. National Institutes of 

 Health, Bethesda (A. 2740), and from the Rocke- 

 feller Foundation (RF60101). 



15.61. Galactosemia and Mongolism in the Same 

 Family. Brigitte Bahrs and Wolfram 

 Ostertag (Miinster, Germany). 



A family with four children, one of them with 

 mongolism and the other with galactosemia, 

 have been investigated. Following modified 

 manometric methods developed by Kirkman 

 and Bynum (1959) and by Schwarz, Holzel 

 et al. (1961) we were able to distinguish the 

 heterozygous carriers from normal controls by 

 measuring the activity of the enzyme Gal-l-P 

 uridyl transferase. All of the children— with the 



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