Immune deficiency in patients with methylmalonic acidemia.

  • Ksibi I Chourou H Cheour M Ayari . Mannai H
  • Published 2017

Abstract

Methylmalonic Acidemia (MMA) is a rare inborn error of metabolism characterized by recurrent episodes of life-threatening metabolic acidosis due to elevated methylmalonic acid concentration in the patient‘s blood, urine and cerebrospinal fluid. Since its first description by Oberholzer and Stokke in 1967, further reports of this disease entity have distinguished vitamin B12 responsive and non-responsive. The clinical signs are recurrent episodes of ketoacidosis and bouts of vomiting, dehydration and mental retardation. This affection can be associated with pancytopenia and few cases are complicated of severe infections. We report the case of two patients who had severe sepsis and were considered as immunodeficient before discovering their organic acidemia.

Cite this paper

@inproceedings{H2017ImmuneDI, title={Immune deficiency in patients with methylmalonic acidemia.}, author={Ksibi I Chourou H Cheour M Ayari . Mannai H}, year={2017} }