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Summary
COBALAMIN MALABSORPTION
  • vitamin B12 (hydroxycobalamin)
Ultimately, the final diagnosis is reached by exclusion of many differential diagnoses and can only be confirmed by genetic testing [Tanner MS et al. 2012]
symptoms
anemia
dementia
growth retardation
infections (severe or recurrent)
mental retardation
muscle weakness
neurological deterioration
neutropenia (decreased neutrophils)
progressive neurologic defect
speech development, delayed, abnormal
thrombopenia, thrombocytopenia
laboratory finding
Vitamin B1250.00200.00200.00900.00pg/mlplasma
Methylmalonic acid50.00500.000.005.00mmol/mol creatinineurine
Homocystine0.000.003.008.00increasedurinenewborn
EEG abnormalities -
Literature
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