Hereditary Methemoglobinemia due to Diaphorase Deficiency

Lo, Simpson; Hitzig, W. H.; Marti, H. R.

doi:10.1159/000208725

Cited by 3 publications

(1 citation statement)

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“…Therefore this hy pothesis cannot be accepted without reservation [12][13][14]23]. The possi ble role of hypocalcemia to the development of neurological disorders was discussed in a recent paper by Lo et al [24], but no suggested evi dence of this combination was mentioned in the previous cases. The sec ond case of F ialkow et al [22] looked normal in early infancy, but de veloped mental retardation later [12].…”

Section: Commentsmentioning

confidence: 99%

Congenital Methemoglobinemia due to Diaphorase Deficiency

Özsoylu¹

1972

Acta Haematol

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A case of congenital methemoglobinemia due to diaphorase deficiency is presented. Recessive inheritance of this disorder was documented by a family study. In addition to congenital methemoglobinemia, the propositus was mentally retarded. Although his mother and a sibling were mentally retarded, his sibling’s methemoglobin diaphorase activity was found to be normal and his mother’sat the heterozygote level.

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Section: Commentsmentioning

confidence: 99%

Congenital Methemoglobinemia due to Diaphorase Deficiency

Özsoylu¹

1972

Acta Haematol

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Heterozygoter NADH-Meth�moglobin-Reduktase-Defekt mit Meth�moglobin�mie bei einem S�gling

et al. 1973

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A three weeks old girl had a considerably elevated proportion of methemoglobin (18% of total hemoglobin) in the course of diarrhea. During the following three months there were repeated episodes of diarrhea and these were always accompanied by elevated, levels of methemoglobin, sometimes up to 50% of total hemoglobin. The activity of the NADtt-dependent methcmoglobin reductase in the erythroeytes of the infant was diminished. Only 50~o normal activity were found. A heterozygous enzyme defect is presumed. Thirteen members of the infant's family were found to be heterozygotes. The combination of an heterozygous enzyme defect with a severe methemoglobinemia is extremely rare. In our patient a toxic substance presumably developing during diarrhea may have produced large amounts of methemoglobin. Because newborns only have 50~o adult methemoglobin reductase-activity the association with a reductase defect will not allow sufficient reduction of the produced methemoglobin.Zusammen]assunff. Bei einem weiblichen S~ugling kam es im Alter yon 3 Wochen im Verlaufe einer Dyspepsie akut zu einer erheblichen ~r von 18~o des vorhandenen H~meglobins. ]In den folgenden Monaten traten wiederholt dyspeptische Sehiibe auf, die jeweils mit einem Anstieg der Methi~moglobin-Konzentration, zeitweise bis 50c~, verbunden waren. In den Erythrocyten des Kindes wurde eine auf 50~o des Normalwertes verminderte Aktivit~t der NADH-abh~ngigen Meth~moglobin-~eduktase gefunden. Offensichtlich handelt es sieh urn einen heterozygoten Enzymdefekt. Bei der Untersnchung der Familie wurden 13 weitere heterozygote Defekttr/~ger beobaehtet. Das Auftreten einer schweren Meth~moglobin~mie ist bei heterozygotem Reduktasemangel sehr selten. Bei unserer Patientin hat vermutlich eine w~hrend der Dyspepsien entstandene Noxe zur vermehrten Bildung yon Meth~moglobin gefiihrt. Da Neugeborene nur 50~o der Methi~moglobin-Reduktase-Aktivit~t yon Erwaehsenen haben, kommt es bei einem gleichzeitigen Meth~moglobin-Reduktase-Defekt nicht zu einer ausreichenden Reduktion des entstandenen Methiimoglobins. * I-Ierrn Dr. E. I-Iegesh, TeI-Aviv, danken wir ffir die Hilfe bei der Einfiihrnng seiner Methode zur Bestimmung der Methiimoglobin-Reduktase-Aktivit~t.

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