Methylmalonic Aciduria | List of Frontiers open access articles

Case Report

Published on 22 Jan 2026

Case Report: Dilated cardiomyopathy as the initial presentation in an adult with late-onset CblC defect

in Cardiovascular Metabolism

Dongling Xu
Chi Zhang
Lin Hao
Shaojie Bi
Aiying Xue
Liangshuai Yuan
Wenke Wang

Frontiers in Cardiovascular Medicine

doi 10.3389/fcvm.2025.1610295

802 views

Original Research

Published on 11 Jul 2024

Two novel SUCLA2 variants cause mitochondrial DNA depletion syndrome, type 5 in two siblings

in Neurogenetics

Xiaohuan Zhang
Guo Zhang
Li Cao
Wenjing Zhou
Chang Tan
Shi Ma
Jiyun Yang

Frontiers in Neurology

doi 10.3389/fneur.2024.1394150

2,467 views
1 citation

Original Research

Published on 25 Nov 2021

Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients

in Genetics of Common and Rare Diseases

Ping Wang
Jianbo Shu
Chunyu Gu
Xiaoli Yu
Jie Zheng
Chunhua Zhang
Chunquan Cai

Frontiers in Pediatrics

doi 10.3389/fped.2021.751895

7,798 views
7 citations

Original Research

Published on 26 Nov 2020

Peripheral Nervous System Involvement in Late-Onset Cobalamin C Disease?

in Neuromuscular Disorders and Peripheral Neuropathies

Xujun Chu
Lingchao Meng
Wei Zhang
Jinjun Luo
Zhaoxia Wang
Yun Yuan

Frontiers in Neurology

doi 10.3389/fneur.2020.594905

5,413 views
7 citations

Case Report

Published on 20 Oct 2022

Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager

in Genetics of Common and Rare Diseases

Siqi Cheng
Weihong Chen
Mingmin Zhao
Xing Xing
Lei Zhao
Bowen Ren
Na Li

Frontiers in Genetics

doi 10.3389/fgene.2022.1012558

4,704 views

Brief Research Report

Published on 24 Nov 2023

Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series

in Movement Disorders

Montaha Almudhry
Arushi Gahlot Saini
Mohammed A. Al-Omari
Yashu Sharma
Maryam Nabavi Nouri
C. Anthony Rupar
Chitra Prasad
Andrea C. Yu
Savita Verma Attri
Asuri Narayan Prasad

Frontiers in Neurology

doi 10.3389/fneur.2023.1265115

3,826 views
1 citation

Case Report

Published on 25 Jul 2022

Case report: Is exchange transfusion a possible treatment for metabolic decompensation in neonates with methylmalonic aciduria in the setting of limited resources?

in Neonatology

Xiaoyu Cui
Na Li
Hong Xue
Fang Zhang
Jianbo Shu
Yang Liu

Frontiers in Pediatrics

doi 10.3389/fped.2022.926793

2,681 views
3 citations

Articles

Case Report: Dilated cardiomyopathy as the initial presentation in an adult with late-onset CblC defect

Two novel SUCLA2 variants cause mitochondrial DNA depletion syndrome, type 5 in two siblings

Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients

Peripheral Nervous System Involvement in Late-Onset Cobalamin C Disease?

Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager

Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series

Case report: Is exchange transfusion a possible treatment for metabolic decompensation in neonates with methylmalonic aciduria in the setting of limited resources?