Hereditary methemoglobinemia due to diaphorase deficiency. Report of a case of heterozygote presenting with cyanosis after birth.
D000469:Alkaline Phosphatase / Q000097:blood; D001786:Blood Glucose / Q000032:analysis; D002118:Calcium / Q000097:blood / Q000627:therapeutic use / Q000652:urine; D003404:Creatinine / Q000652:urine; D003490:Cyanosis / Q000209:etiology; D008058:Dihydrolipoamide Dehydrogenase / Q000378:metabolism*; D004586:Electrophoresis; D005260:Female; D005782:Gels; D005978:Glutathione / Q000097:blood; D006400:Hematocrit; D006452:Hemoglobinometry; D006579:Heterozygote; D006801:Humans; D006996:Hypocalcemia / Q000150:complications; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors; D008708:Methemoglobinemia / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D010375:Pedigree; D010710:Phosphates / Q000097:blood / Q000652:urine; D011247:Pregnancy; D013057:Spectrum Analysis; D013213:Starch; D014508:Urea / Q000097:blood; D014807:Vitamin D / Q000627:therapeutic use
D001786:Blood Glucose; D005782:Gels; D010710:Phosphates; D014807:Vitamin D; D014508:Urea; D013213:Starch; D003404:Creatinine; D008058:Dihydrolipoamide Dehydrogenase; D000469:Alkaline Phosphatase; D005978:Glutathione; D002118:Calcium