Case report: Desquamating dermatitis, bilateral cerebellar lesions in a late-onset methylmalonic acidemia patient

• Published in: Frontiers in neurology Vol. 14
• Main Authors: Chen, Qihua, Tang, Jianguang, Zhang, Hainan, Qin, Lixia
• Format: Journal Article
• Language: English
• Published: Frontiers Media S.A 22.09.2023
• Subjects: cerebellum; cobalamin C deficiency; desquamating dermatitis; genes; Neurology; skin lesions

Introduction Cobalamin C (cblC) deficiency is a rare hereditary disorder affecting intracellular cobalamin metabolism, primarily caused by mutations in MMACHC . This condition is characterized by combined methylmalonic acidemia and hyperhomocysteinemia, displaying a wide range of clinical manifestat...