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Summary
NADH-DEPENDENT METHEMOGLOBIN REDUCTASE DEFICIENCY
METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE
250800
OMIM = Online Medalian Inheritance of Men
22q13.31-qter

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • vitamin C (ascorbate)
rare, autosomal recessive
Type I: most frequent, Type II:progressive disorder, 10% of individuals, Type III:
Type IV: associated with chronic cyanosis
symptoms
cyanosis
methemoglobinemia
onset, newborn
laboratory finding
Literature
Hansen GMet al.Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutantsBiochem J3810537-5462004