COBALAMIN MALABSORPTION

Question 1

What is  COBALAMIN MALABSORPTION?

Accepted Answer

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]
in patients with anemia, approximately 1% to 2% are due to B12 deficiency [Ankar A 2017]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Cobalamin-Malabsorption

Question 3

Which enzymes are involved?

Accepted Answer

chronic malnutrition, parasitic infections, inborn errors of absorption or metabolism

Disease	COBALAMIN MALABSORPTION
Gene locus
ICD
Summary	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] in patients with anemia, approximately 1% to 2% are due to B12 deficiency [Ankar A 2017]
Laboratory findings	Vitamin B12 inc (plasma) L-Homocystine inc (urine) Methylmalonic acid inc (urine)
Symptoms	anemia anemia dementia EEG abnormalities [-] growth retardation, poor growth infections (severe or recurrent) mental retardation muscle weakness neurological deterioration neutropenia (decreased neutrophils) onset, adolescent onset, adulthood onset, childhood onset, infancy progressive neurologic defect speech development, delayed, abnormal thrombopenia, thrombocytopenia