{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T09:07:12Z","timestamp":1764493632990,"version":"build-2065373602"},"reference-count":24,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1982,6]]},"abstract":"<jats:p>NADH-diaphorase and cytochrome b5 reductase activities of platelets and leucocytes, as well as erythrocytes, were found to be deficient in a patient with hereditary methaemoglobinaemia associated with moderate mental retardation and non-progressive neurological disturbance, in which hyperactive reflexes and involuntary movements were notable. In another methaemoglobinaemic patient with no mental or neurological abnormalities, these enzyme activities were defective in erythrocytes but normal in platelets and leucocytes. The first case was a generalised cytochrome b5 reductase deficiency with non-progressive encephalopathy. It is suggested that the detection of cytochrome b5 reductase activity in platelets, in addition to that in leucocytes, is useful for the assessment of a generalised enzyme defect. Genetical involvement of the present cases is discussed in association with the diaphorase gene loci in humans.<\/jats:p>","DOI":"10.1136\/jmg.19.3.204","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"204-209","source":"Crossref","is-referenced-by-count":10,"title":["Alteration of NADH-diaphorase and cytochrome b5 reductase activities of erythrocytes, platelets, and leucocytes in hereditary methaemoglobinaemia with and without mental retardation."],"prefix":"10.1136","volume":"19","author":[{"given":"M","family":"Takeshita","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Matsuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Tanishima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Yubisui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Yoneyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Kurata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Hara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Igarashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1982,6,1]]},"reference":[{"key":"ref_1","first-page":"6072","article-title":"Purification of reduced pyridine nucleotide dehydrogenase from human erythrocytes and methemoglobin reduction by the enzyme","volume":"246","author":"Sugita, Y.; Nomura, S.; Yoneyama, Y.","year":"1971","unstructured":"Sugita Y, Nomura S, Yoneyama Y. Purification of reduced pyridine nucleotide dehydrogenase from human erythrocytes and methemoglobin reduction by the enzyme. J Biol Chem 1971;246:6072-8. dependent on FAD has been reported.28 The physiological role of these diaphorases, apart from the DIA1 product, is not yet clear. The 'red cell' type diaphorase has been demonstrated in a variety of","journal-title":"J Biol Chem; dependent on FAD has been reported.28 The physiological role of these diaphorases, apart from the DIA1 product, is not yet clear. The 'red cell' type diaphorase has been demonstrated in a variety of"},{"key":"ref_2","first-page":"252","article-title":"Catalysis of methemoglobin reduction by erythrocyte cytochrome br and cytochrome b5 reductase","volume":"229","author":"Hultquist, D.E.; Passon, P.G.","year":"1971","unstructured":"Hultquist DE, Passon PG. Catalysis of methemoglobin reduction by erythrocyte cytochrome br and cytochrome b5 reductase. Nature 1971;229:252-4.","journal-title":"Nature"},{"key":"ref_3","article-title":"Hereditary methemoglobinemia with deficiency of NADH dehydrogenase","volume-title":"Metabolic basis of inherited disease","author":"Schwarz, J.M.; Jaffe, E.R.","year":"1978","unstructured":"Schwarz JM, Jaffe ER. Hereditary methemoglobinemia with deficiency of NADH dehydrogenase. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, eds. Metabolic basis of inherited disease. New York: McGraw-Hill, 1978: phorases are the products of the same gene locus,27 a possible explanation for the occurrence of type 1 and 2 methaemoglobinaemia might be as follows. Type 1 methaemoglobinaemia could result from a mutation producing an unstable enzyme leading to loss of enzyme activity in erythrocytes, while synthesis of enzyme protein might compensate in other tissues. 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J Biol Chem 1979; 254:7778-84.","journal-title":"J Biol Chem"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.19.3.204","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:55:24Z","timestamp":1760738124000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.19.3.204"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1982,6]]},"references-count":24,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1982,6,1]]},"published-print":{"date-parts":[[1982,6]]}},"alternative-id":["10.1136\/jmg.19.3.204"],"URL":"https:\/\/doi.org\/10.1136\/jmg.19.3.204","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1982,6]]}}}