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This case report discusses a congenital methaemoglobinaemia Type I in a Turkish infant due to a novel mutation, Pro144Ser, in NADH-cytochrome b5 reductase
Abstract:
A baby centrally cyanosed from birth was investigated for a congenital cardiac defect. Echocardiography and angiography revealed patent foramen ovale without any other cardiac abnormality. Congenital methaemoglobinaemia was considered as the methaemoglobin level was 27%, suggesting either Hb M or a deficiency of the NADH-cytochrome b5 reductase (cytb5r) enzyme. Measurement of the cytb5r more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
congenital methaemoglobinaemia Type I
Geography:
Northern Ireland
Hematol J,
Vol: 5 Page: 367-70 2004
M. J. Percy; H. Oren; G. Savage; G. Irken
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