Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.

ABSTRACT:

Objectives

To present the very long-term follow up of patients with cobalamin A (cblA) deficiency.

Methods

A retrospective case series of adult (>16 years) patients with molecular or enzymatic diagnosis of cblA deficiency.

Results

We included 23 patients (mean age: 27 ± 7.6 years; mean follow-up: 24.9 ± 7.6 years). Disease onset was mostly pediatric (78% < 1 year, median = 4 months) with acute neurologic deterioration (65%). Eight patients presented with chronic symptoms, and one had an adult-onset mild cblA deficiency. Most of the patients (61%) were initially classified as vitamin B12-unresponsive methylmalonic aciduria (MMA); in vitro B12 responsiveness was subsequently found in all the tested patients (n = 13). Initial management consisted of protein restriction (

SUBMITTER: Marelli C 

PROVIDER: S-EPMC9540587 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature