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OMIM = Online Mendelian Inheritance of Men

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
E43, E44.-, E45, E53.8
- breast fed infants may develop vitamine B12 deficiency from mothers with a strict veganian diet, restrictive alternative nutrition may be responsible for various deficiency disorders (Kanaka et al. 1992) - risk factors for developing vitamin D-deficient Rickets include breast-feeding without formula or vitamin supplementation (Bellazzini MA 2005)
Laboratory findingsHomocysteine inc (serum)
Vitamin B12 dec (serum)
    Holotranscobalamin dec (serum)
    L-Carnitine dec (plasma)
    Methylmalonic acid inc (urine)
Symptoms    anemia
    behavior, abnormal or bizarre, confusion
    decreased muscle volume, atrophy or hypoplasia
    failure to thrive
    feeding difficulties, poor feeding
    mental retardation
    motor retardation
    onset, infancy
    Organic acids, urine