Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.

ABSTRACT:

Introduction

Combined methylmalonic acidemia and homocystinuria, cblC type is an inborn error of intracellular cobalamin metabolism and the most common one. The age of onset ranges from prenatal to adult. The disease is characterised by an elevation of methylmalonic acid (MMA) and homocysteine and a decreased production of methionine. The aim is to review existing scientific literature of all late onset cblC patients in terms of clinical symptoms, diagnosis, and outcome.

Methods

A bibliographic database search was undertaken in PubMed (MEDLINE) complemented by a reference list search. We combined search terms regarding cblC disease and late onset. Two review authors performed the study selection, data extraction and quality assessment.

Results

Of the sixty-five articl

SUBMITTER: Arhip L 

PROVIDER: S-EPMC10799514 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature