Patricia N. Konrad

-Glutamyl-cysteine synthetase deficiency. A cause of hereditary hemolytic anemia.

Abstract In some families with hemolytic anemia and a low level of reduced glutathione in erythrocytes, the disorder is associated with a deficiency of glutathione synthetase, the second of two enz...

Enzymatic Activities and Glutathione Content of Erythrocytes in the Newborn: Comparison with Red Cells of Older Normal Subjects and those with Comparable Reticulocytosis

20 enzymatic activities and the glutathione content of newborn erythrocytes are compared (a) to normal and (b) to comparably reticulocyte-rich nonneonatal red cells. Six were very high in comparison to either control group (GSH, PGK, Enol., G-3-PD, GPI, G-6-PD). Five were very low (ACHE, RPK, GSH-Px, AK and PFK). The mean of the remainder differed from the mean of comparably reticulocyte-rich blood by less than 1 SD of the latter mean. Cord erythrocytes exhibit a characteristic metabolic pattern not explained by a young mean cell age alone.

Nonspherocytic Haemolytic Anaemia with Increased Red Cell Adenine Nucleotides, Glutathione and Basophilic Stippling and Ribosephosphate Pyrophosphokinase (RPK) Deficiency: Studies on Two New Kindreds

The second and third kindreds with hereditary haemolytic anaemia characterized by marked basophilic stippling of the erythrocytes, increased red‐cell GSH and adenine nucleotides, and ribosephosphate pyrophosphokinase (RPK, PRPP synthetase) deficiency are reported. In each affected subject increased auto‐haemolysis was not corrected by glucose additives in the autohaemolysis test. Despite the clearly hereditary nature of the syndrome, a heterozygous ‘carrier’ state could not be demonstrated in any family members. While autosomal recessive transmission is likely, the genetics remain obscure. The roles of substantial RPK deficiency as either a causative factor or an epiphenomenon is likewise not firmly established.

Erythrocyte and leukocyte phosphoglycerate kinase deficiency with neurologic disease

Two brothers with congenital nonspherocytic hemolytic anemia and neurologic disease were found to have erythrocyte and leukocyte phosphoglycerate kinase deficiency. Elevated levels of red cell dihydroxyacetone phosphate and 2,3-diphosphoglycerate were documented as well. Erythrocyte phosphoglycerate kinase deficiency is X-chromosome linked, and the present report brings the number of male hemizygous individuals to five. All are mentally retarded and some have additional neurologic defects,

Erythrocyte enzymatic abnormalities in HEMPAS (hereditary erythroblastic multinuclearity with a positive acidified-serum test).

Summary. In one type of hereditary dyserythropoietic anaemia, HEMPAS (hereditary erythroblastic multinuclearity with a positive acidified‐serum test) striking increases in the activity of some, but not all, erythrocyte enzymes have been detected in three cases. Since there was only minimal reticulocytosis, these enzyme changes cannot be accounted for by the presence of a young erythrocyte population. It is suggested that the enzymatic abnormalities of HEMPAS result from abnormal karyo‐ and cyto‐kinesis of the erythroid precursors.

Late death fromneuroblastoma

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