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Summary
METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE
METHEMOGLOBINEMIA, TYPE I METHEMOGLOBINEMIA, TYPE II
250800
OMIM = Online Medalian Inheritance of Men
621
22q13.2

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • vitamin C (ascorbate)
rare
autosomal recessive
Type I: most frequent, methemoglobin concentration 10-35%
Type II: is progressive and leads to shortened lifespan, 10% of individuals
Type IV: Methemoglobin concentration 12 to 19%
symptoms
cyanosis
dyspnea
growth retardation
headache (severe, recurrent or occipital, migraine)
hypertonia, spasticity
mental retardation
methemoglobinemia
microcephaly (<2 SD for age)
onset, neonatal
opisthotonus
polycythemia
strabismus
laboratory finding
Literature
Frazier DM,et al.Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approachMol Genet Metab1123210-2172014
Hansen GMet al.Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutantsBiochem J3810537-5462004