Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists.

ABSTRACT:

Background

Methylmalonic aciduria and homocystinuria, CblC type (OMIM #277400) is the most common disorder of cobalamin intracellular metabolism, an autosomal recessive disease, whose biochemical hallmarks are hyperhomocysteinemia, methylmalonic aciduria and low plasma methionine. Despite being a well-recognized disease for pediatricians, there is scarce awareness of its adult presentation. A thorough analysis and discussion of cobalamin C defect presentation in adult patients has never been extensively performed. This article reviews the published data and adds a new case of the latest onset of symptoms ever described for the disease.

Results

We present the emblematic case of a 45-year-old male, describing the diagnostic odyssey he ventured through to get to the appropriate

SUBMITTER: Kalantari S 

PROVIDER: S-EPMC8812048 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature