(congenital cobalamine deficiency)

Autosomal recessive transmission of either a mutation of the CUBN gene (10p12.1)coding for cubuline, either of the AMNN gene  (ch 14), coding for amnionless protein. These proteins are present inthe ileum (transport of vitamin B12) and in the renal tubule. Their mutation causes a selective malabsorption of cobalamin (vit B12) by the ileum and a proteinuria. If the treatment is delayed, definitive neurological disorders appear, due to the accumulation of homocysteine and methylmalonic acid associated with methionine deficiency. Treatment: vitamin B12.

Anesthetic implications: 

check hemoglobin levels; avoid using N2O

References:

Updated: March 2019