Cobalamin C syndrome

Also known as: Methylmalonic aciduria with homocystinuria cblC

Combined methylmalonic aciduria and homocystinuria with megaloblastic anemia and thrombotic microangiopathy.

Medical specialty: Hematology
Subspecialty: Hematology / Metabolic hematology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: MMACHC

Etiology & mechanism

Intracellular cobalamin processing defect.

Gene(s) involved (1)

MMACHC

Symptoms & signs (6)

developmental delayfailure to thrivehydrocephalusmegaloblastic anemiapulmonary hypertensionthrombotic microangiopathy

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.