BIOMAT Database Logo BIOMAT Database Logo

Combined glucose phosphate isomerase and glucose-6-phosphate dehydrogenase deficiency of erythrocytes. 1978

I Steiman, and S Kaufman, and J L Zaidman, and H Leiba

A patient with combined deficiency of erythrocyte glucose phosphate isomerase (GPI) and glucose-6-phosphate dehydrogenase (G6PD) is presented. The propositus has persistent unconjugated hyperbilirubinemia. One of his two brothers exhibits the same rare enzymatic defect, but without any clinical symptoms. The electrophoretic pattern of GPI showed GPI type 1. There seems to be a correlation between the unconjugated hyperbilirubinemia and the combined enzymopathy in our patient.

UI MeSH Term Description Entries
D008297 Male Males
D004912 Erythrocytes Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN. Blood Cells, Red,Blood Corpuscles, Red,Red Blood Cells,Red Blood Corpuscles,Blood Cell, Red,Blood Corpuscle, Red,Erythrocyte,Red Blood Cell,Red Blood Corpuscle
D005260 Female Females
D005955 Glucosephosphate Dehydrogenase Deficiency A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia. Deficiency of Glucose-6-Phosphate Dehydrogenase,Deficiency, GPD,Deficiency, Glucosephosphate Dehydrogenase,G6PD Deficiency,GPD Deficiency,Glucose 6 Phosphate Dehydrogenase Deficiency,Glucose-6-Phosphate Dehydrogenase Deficiency,Glucosephosphate Dehydrogenase Deficiencies,Hemolytic Anemia Due to G6PD Deficiency,Deficiencies, G6PD,Deficiencies, GPD,Deficiencies, Glucose-6-Phosphate Dehydrogenase,Deficiencies, Glucosephosphate Dehydrogenase,Deficiency of Glucose 6 Phosphate Dehydrogenase,Deficiency, G6PD,Deficiency, Glucose-6-Phosphate Dehydrogenase,Dehydrogenase Deficiencies, Glucose-6-Phosphate,Dehydrogenase Deficiencies, Glucosephosphate,Dehydrogenase Deficiency, Glucose-6-Phosphate,Dehydrogenase Deficiency, Glucosephosphate,G6PD Deficiencies,GPD Deficiencies,Glucose-6-Phosphate Dehydrogenase Deficiencies
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006932 Hyperbilirubinemia A condition characterized by an abnormal increase of BILIRUBIN in the blood, which may result in JAUNDICE. Bilirubin, a breakdown product of HEME, is normally excreted in the BILE or further catabolized before excretion in the urine. Bilirubinemia,Bilirubinemias,Hyperbilirubinemias
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000746 Anemia, Hemolytic, Congenital Nonspherocytic Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in GLUCOSE-6-PHOSPHATE ISOMERASE; PYRUVATE KINASE; and GLUCOSE-6-PHOSPHATE DEHYDROGENASE. Anemia, Congenital Nonspherocytic Hemolytic,Anemia, Hemolytic Congenital, Nonspherocytic,Congenital Nonspherocytic Hemolytic Anemia,Hemolytic Anemia, Congenital Nonspherocytic

Related Publications

I Steiman, and S Kaufman, and J L Zaidman, and H Leiba
Combined erythrocyte phosphohexose isomerase and glucose-6-phosphate dehydrogenase deficiency.
January 1973, Human heredity,
I Steiman, and S Kaufman, and J L Zaidman, and H Leiba
Combined glucosephosphate isomerase and glucose-6-phosphate dehydrogenase deficiency of the erythrocytes: a new haemolytic syndrome.
March 1971, British journal of haematology,
I Steiman, and S Kaufman, and J L Zaidman, and H Leiba
Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome.
January 2003, Blood cells, molecules & diseases,
I Steiman, and S Kaufman, and J L Zaidman, and H Leiba
[KERNICTERUS IN GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY OF ERYTHROCYTES].
August 1963, Helvetica paediatrica acta,
I Steiman, and S Kaufman, and J L Zaidman, and H Leiba
Glucose-6-phosphate isomerase deficiency.
March 2000, Bailliere's best practice & research. Clinical haematology,
I Steiman, and S Kaufman, and J L Zaidman, and H Leiba
[Hereditary glucose-6-phosphate dehydrogenase deficiency in human erythrocytes].
January 1970, Postepy higieny i medycyny doswiadczalnej,
I Steiman, and S Kaufman, and J L Zaidman, and H Leiba
[Glucose-6-phosphate dehydrogenase deficiency of erythrocytes in the GDR].
January 1977, Acta biologica et medica Germanica,
I Steiman, and S Kaufman, and J L Zaidman, and H Leiba
Glucose-6-phosphate isomerase deficiency hemolysis.
December 2023, Quantitative imaging in medicine and surgery,
I Steiman, and S Kaufman, and J L Zaidman, and H Leiba
Combined erythrocyte glucosephosphate isomerase (GPI) and glucose-6-phosphate dehydrogenase (G6PD) deficiency in an Italian family.
January 1981, Human genetics,
I Steiman, and S Kaufman, and J L Zaidman, and H Leiba
The separation of glucose-6-phosphate dehydrogenase deficient erythrocytes from blood of heterozygotes for glucose-6-phosphate dehydrogenase deficiency.
January 1965, Folia haematologica (Leipzig, Germany : 1928),
Copied contents to your clipboard!