Outcomes of Patients with Cobalamin C Deficiency: A Single Center Experience

Overview

Journal JIMD Rep

Publisher Wiley

Date 2021 Jan 21

PMID 33473346

Citations 6

Authors

Danielle K Bourque

Lizbeth E Mellin-Sanchez

Garrett Bullivant

Vivian Cruz

Anette Feigenbaum

Stacy Hewson

Julian Raiman

Andreas Schulze

Komudi Siriwardena

Saadet Mercimek-Andrews

Affiliations

Soon will be listed here.

Abstract

Biallelic variants in results in the combined methylmalonic aciduria and homocystinuria, called cobalamin (cbl) C (cblC) deficiency. We report 26 patients with cblC deficiency with their phenotypes, genotypes, biochemical parameters, and treatment outcomes, who were diagnosed and treated at our center. We divided all cblC patients into two groups: group 1: SX group: identified after manifestations of symptoms (n = 11) and group 2: NB group: identified during the asymptomatic period via newborn screening (NBS) or positive family history of cblC deficiency (n = 15). All patients in the SX group had global developmental delay and/or cognitive dysfunction at the time of the diagnosis and at the last assessment. Seizure, stroke, retinopathy, anemia, cerebral atrophy, and thin corpus callosum in brain magnetic resonance imaging (MRI) were common in patients in the SX group. Global developmental delay and cognitive dysfunction was present in nine patients in the NB group at the last assessment. Retinopathy, anemia, and cerebral atrophy and thin corpus callosum in brain MRI were less frequent. We report favorable outcomes in patients identified in the neonatal period and treated pre-symptomatically. Identification of cblC deficiency by NBS is crucial to improve neurodevelopmental outcomes.

Citing Articles

Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type.

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Late-onset cobalamin C deficiency type in adult with cognitive and behavioral disturbances and significant cortical atrophy and cerebellar damage in the MRI: a case report.

Sun M, Dai Y Front Neurol. 2023; 14:1308289.

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Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.

Esser A, Mukherjee S, Derevenkov I, Makarov S, Jacobsen D, Spiekerkoetter U iScience. 2022; 25(9):104981.

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Post-Treatment Movement Disorder in a Child with Late-onset Cobalamin Deficiency.

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