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1/175. Two new glucose 6-phosphate dehydrogenase variants associated with congenital nonspherocytic hemolytic anemia found in japan: GD(-) Tokushima and GD(-) tokyo.

    Two new variants of glucose 6-phosphate dehydrogenase (G6PD) deficiency associated with chronic nonspherocytic hemolytic anemia were discovered in japan. Gd(-) Tokushima was found in a 17-years-old male whose erythrocytes contained 4.4% of normal enzyme activity. Partially purified enzyme revealed a main band of normal electrophoretic mobility with additional two minor bands of different mobility; normal Km G6P, and Km nadp five-to sixfold higher than normal; normal utilization of 2-deoxy-G6P, galactose-6P, and deamino-nadp; marked thermal instability; a normal pH curve; and normal Ki NADPH. The hemolytic anemia was moderate to severe. Gd(-) tokyo was characterized from a 15-year-old male who had chronic nonspherocytic hemolytic anemia of mild degree. The erythrocytes contained 3% of normal enzyme activity, and partially purified enzyme revealed slow electrophoretic mobility (90% of normal for both a tris-hydrochloride buffer system and a tris-EDTA-borate buffer system, and 70% of normal for a phosphate buffer system); normal Km G6P and Km nadp; normal utilization of 2-deoxy-G6P, galactose-6P, and deamino-nadp; greatly increased thermal instability; a normal pH curve; and normal Ki NADPH. These two variants are clearly different from hitherto described G6PD variants, including the Japanese variants Gd(-) Heian and Gd(-) Kyoto. The mothers of both Gd(-) Tokushima and Gd(-) Tokoyo were found to be heterozygote by an ascorbate-cyanide test. ( info)

2/175. Severe jaundice in a gunshot casualty due to the coexistence of Dubin-Johnson and glucose-6-phosphate dehydrogenase deficiency.

    We report an unusual case of a 21-year-old man who was shot in his abdomen in the course of a robbery. He was previously diagnosed as glucose-6-phosphate dehydrogenase deficient. Mild icterus was noticed on admission to the emergency room. Exploratory laparotomy revealed a perforated ileal loop that was resected, and because the liver color was greenish black, a liver biopsy was performed during the operation. After operation the patient went through a severe icteric state that resolved spontaneously within a few days. Urinary coproporphyrin levels, along with compatible liver biopsy, confirmed the diagnosis of Dubin-Johnson disease. Severe hyperbilirubinemia after an abdominal injury is uncommon and is usually due to either a biliary duct injury or iatrogenic injury. This case presents an unusual cause of severe postoperative jaundice due to the rare coexistence of two inherited disorders. ( info)

3/175. Perioperative management of glucose 6 phosphate dehydrogenase deficiency. A review of the literature.

    Glucose 6 phosphate dehydrogenase (G6PDH) deficiency is the most frequent cause of hemolytic anemias due to enzyme abnormality. Perioperative management must be careful to avoid the onset of hemolytic crisis. We present a complete review of the literature on this illness and describe the perioperative management of an adult with known G6PD deficiency and the pathogenesis and clinical manifestations of the disorder and its possible anesthetic implications are discussed. A 49-year-old patient had undergone varum osteotomy in her left knee due to genu valgum. She had been diagnosed as having G6PDH deficiency sixteen years earlier provoked by ingesting beans. The perioperative circumstances capable of causing autohemolysis are described and discussed. In spite of the fact that the pattern is self-limited, it provokes the onset of jaundice and anemia which can complicate the recovery. Simple elimination of those elements which precipitate with oxyhemoglobin will allow an uneventful anesthetic procedure. ( info)

4/175. Several mutations including two novel mutations of the glucose-6-phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favism.

    dna sequencing revealed seven different glucose-6-phosphate dehydrogenase (G6PD) mutations in G6PD deficient subjects from 10 Polish families. Among them we found two novel mutations: 679C-->T (G6PD Radlowo, class 2) and a 1006A-->G (G6PD Torun, class 1). Variant G6PD Radlowo was characterized biochemically. Both novel mutations were analyzed using a model of the tertiary structure of the human enzyme. The main chain of G6PD Torun is different from the wild-type G6PD. The remaining mutations identified by us in deficient Polish patients were: 542A-->T (G6PD Malaga), 1160G-->A (G6PD Beverly Hills), 1178G-->A (G6PD Nashville), 1192G-->A (G6PD Puerto Limon), and 1246G-->A (G6PD tokyo). Variant tokyo was found in four families. In one of them favism was the first clinical sign of G6PD deficiency and chronic nonspherocytic hemolytic anemia (CNSHA) was diagnosed later. Variants G6PD Nashville and G6PD Puerto Limon were accompanied by the silent mutation 1311C-->T of the G6PD gene. ( info)

5/175. A new glucose 6 phosphate dehydrogenase variant G6PD Sinnai (34 G-->T). Mutations in brief no. 156. Online.

    In this paper we report a male infant heterozygous for thalassemia with a mild glucose 6 phosphate dehydrogenase deficiency. The molecular basis of this new Class III G6PD variant is a G-->T mutation at nucleotide 34 in the exon 2, which predicts a Val-->Leu aminoacid substitution at codon 12. We designated this variant as G6PD Sinnai from the place of birth of the propositus. ( info)

6/175. Management of a case of chloroquine-resistant falciparum malaria in a pregnant woman with glucose-6-phosphate dehydrogenase (G6PD) deficiency.

    The available antimalarial drugs for the treatment of plasmodium falciparum malaria during pregnancy are potentially toxic, especially in the presence of red blood cells (RBC) defects. We describe a case of chloroquine-resistant malaria by P. falciparum in a pregnant woman with glucose-6-phosphate dehydrogenase (G6PD) deficiency successfully treated with pyrimethamine followed by mefloquine administration. The susceptibility of P. falciparum to chloroquine and mefloquine was assessed by an in vitro test before treatment. pyrimethamine and mefloquine were administered at the 18th and 22nd week of pregnancy, respectively. mefloquine concentrations were monitored in the mother's blood at 2, 4, 8, 12, 24 and 48 hr after the administration to define effective blood-drug concentrations. Blood smear examination was negative after 48 hr post mefloquine treatment. No histologic lesions of the placenta were observed. The newborn presented normal clinical parameters. The administration of pyrimethamine prevented massive placental infection, thus permitting the fetus to achieve suitable gestational age for further treatment with mefloquine to eradicate P. falciparum malaria without deleterious effects to the newborn. Subsequent studies could contribute to define safe administration of mefloquine in G6PD-deficient pregnant woman. ( info)

7/175. Molecular characterization of a German variant of glucose-6-phosphate dehydrogenase deficiency (G6PD Aachen).

    glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-chromosome-linked hereditary disorder. Clinically, patients with G6PD deficiency often present with drug- or food-induced hemolytic crises or neonatal jaundice. G6PD is involved in the generation of NADPH and reduced glutathione. In contrast to American, Mediterranean, and African ancestries, only few variants are known from Middle and Northern europe. We describe the molecular characterization of a distinct variant from the northwestern area of germany, G6PD Aachen. The sequence of the G6PD gene from three afflicted males was found to be hemizygous at cDNA residue 1089 for a C-->G mutation with a predicted amino acid change of Asn363Lys. The 1089 C-->G point mutation is unique, but produces the identical amino acid change found in a Mexican variant of G6PD deficiency, G6PD loma Linda. This G6PD-deficient variant is caused by a 1089 C-->A mutation. The 363-amino-acid replacement is located outside a known mutation cluster region between amino acid residues 380 and 450, but may disrupt or weaken dimer interactions of G6PD enzyme subunits. ( info)

8/175. glucose-6-phosphate dehydrogenase deficiency-induced hemolysis in newly diagnosed diabetic monozygotic twins.

    A pair of monozygotic male twins are described who manifested hemolysis at the concurrent onset of diabetes type 1. hemolysis appeared progressively following the correction of hyperglycemia and ketoacidosis (one twin). It was found to be related to unknown glucose 6-phosphate dehydrogenase (G-6-PD) deficiency. Other causes of hemolysis such as drugs or bacterial infection were excluded. The fall in glucose availability after the correction of hyperglycemia is proposed as a possible explanation for hemolysis. ( info)

9/175. methylene blue-induced hyperbilirubinemia in neonatal glucose-6-phosphate dehydrogenase (G6PD) deficiency.

    methylene blue continues to be used in the gravid female. We report three premature neonates exposed to methylene blue that experienced severe hemolytic reactions requiring exchange transfusions. Two neonates were subsequently diagnosed with G6PD deficiency. Continued caution is warranted prior to the use of methylene blue in the gravid female. ( info)

10/175. Bilateral pulmonary edema after endoscopic sympathectomy in a patient with glucose-6-phosphate dehydrogenase deficiency.

    Transaxillary endoscopic sympathectomy of thoracic ganglia (T2-T3) has recently gained wider acceptance as the treatment of choice for palmar hyperhidrosis. It requires one-lung ventilation to facilitate the surgery. one-lung ventilation, however, is not without complications, among which acute pulmonary edema has been reported. In this case report, we present a patient with palmar hyperhidrosis complicated by glucose-6-phosphate dehydrogenase (G-6-PD) deficiency, who received bilateral endoscopic sympathectomy under alternate one-lung anesthesia, and developed acute pulmonary edema immediately after recruitment of the successive collapsed lung. The effects of hypoxemia, G-6-PD deficiency and sympathectomy might all add to the development of acute pulmonary edema secondary to reexpansion of each individual lung after alternate one-lung ventilation. The possibilities of the inferred causes are herein discussed. ( info)
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