Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series

Sheng-jun Wang, Chuan-zhu Yan, Bing Wen, Yu-ying Zhao Department of Neurology, Qilu Hospital, Shandong University, Jinan, China Objective: The Cobalamin C (cblC) disease is an inborn error of cobalamin metabolism. Late-onset cblC disease was diagnosed in patients having overt symptoms after 4 year...

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Autores principales:	Wang S, Yan C, Wen B, Zhao Y
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2019
Materias:	methylmalonic aciduria homocysteine late-onset neuropsychiatric cobalamin Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/f825d543aa1842bea87c67d585471bcd
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spelling	oai:doaj.org-article:f825d543aa1842bea87c67d585471bcd2021-12-02T02:24:34ZClinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series1178-2021https://doaj.org/article/f825d543aa1842bea87c67d585471bcd2019-02-01T00:00:00Zhttps://www.dovepress.com/clinical-feature-and-outcome-of-late-onset-cobalamin-c-disease-patient-peer-reviewed-article-NDThttps://doaj.org/toc/1178-2021Sheng-jun Wang, Chuan-zhu Yan, Bing Wen, Yu-ying Zhao Department of Neurology, Qilu Hospital, Shandong University, Jinan, China Objective: The Cobalamin C (cblC) disease is an inborn error of cobalamin metabolism. Late-onset cblC disease was diagnosed in patients having overt symptoms after 4 years of age. The late-onset cblC disease patients were rare and easily misdiagnosed. This study analyzed the clinical presentations, gene mutations, and treatments of Chinese patients with late-onset cblC disease. Methods: The clinical data of 26 Han Chinese patients diagnosed with late-onset cblC disease were retrospectively analyzed. All patients underwent serum homocysteine level exam, urine concentrations of organic acids measurement, neuroimaging scans, gene analysis, and treatments evaluations. Results: The mean age at disease onset and diagnosis was 17.8±7.0 years. The most frequent neuropsychiatric disturbances were lower limb weakness (50%), psychiatric disturbances (46.2%), and gait instability (42.3%). The mean methylmalonic acid level in urine was 107.4±56.6 µmol/L, and mean serum total homocysteine was 105.4±41.0 µmol/L. The most common abnormal radioimaging changes were observed in the spinal cord (88%) and brain (32%). Scoliosis was detected in 85.7% of patients. The methylmalonic aciduria and homocystinuria type C protein gene analysis showed that c.482G>A (57.7%) and c.609G>A (34.6%) mutations were the most frequent genotypes. After treatments with hydroxycobalamin, betaine, folic acid, L-carnitine, and compound vitamin B, the clinical features and biochemical parameters of patients with late-onset cblC disease were found to be alleviated. Conclusion: In our late-onset cblC disease cases, lower limb weakness, psychiatric disturbances, and gait instability were the most frequent manifestations. Patients responded well to the drug treatments with hydrocobalamin and betaine. When juvenile or adult patients with hyperhomocysteinemia present with neurological symptoms, cblC disease needs to be considered. Keywords: methylmalonic aciduria, homocysteine, late-onset, neuropsychiatric, cobalaminWang SYan CWen BZhao YDove Medical Pressarticlemethylmalonic aciduriahomocysteinelate-onsetneuropsychiatriccobalaminNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENNeuropsychiatric Disease and Treatment, Vol Volume 15, Pp 549-555 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	methylmalonic aciduria homocysteine late-onset neuropsychiatric cobalamin Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
spellingShingle	methylmalonic aciduria homocysteine late-onset neuropsychiatric cobalamin Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 Wang S Yan C Wen B Zhao Y Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series
description	Sheng-jun Wang, Chuan-zhu Yan, Bing Wen, Yu-ying Zhao Department of Neurology, Qilu Hospital, Shandong University, Jinan, China Objective: The Cobalamin C (cblC) disease is an inborn error of cobalamin metabolism. Late-onset cblC disease was diagnosed in patients having overt symptoms after 4 years of age. The late-onset cblC disease patients were rare and easily misdiagnosed. This study analyzed the clinical presentations, gene mutations, and treatments of Chinese patients with late-onset cblC disease. Methods: The clinical data of 26 Han Chinese patients diagnosed with late-onset cblC disease were retrospectively analyzed. All patients underwent serum homocysteine level exam, urine concentrations of organic acids measurement, neuroimaging scans, gene analysis, and treatments evaluations. Results: The mean age at disease onset and diagnosis was 17.8±7.0 years. The most frequent neuropsychiatric disturbances were lower limb weakness (50%), psychiatric disturbances (46.2%), and gait instability (42.3%). The mean methylmalonic acid level in urine was 107.4±56.6 µmol/L, and mean serum total homocysteine was 105.4±41.0 µmol/L. The most common abnormal radioimaging changes were observed in the spinal cord (88%) and brain (32%). Scoliosis was detected in 85.7% of patients. The methylmalonic aciduria and homocystinuria type C protein gene analysis showed that c.482G>A (57.7%) and c.609G>A (34.6%) mutations were the most frequent genotypes. After treatments with hydroxycobalamin, betaine, folic acid, L-carnitine, and compound vitamin B, the clinical features and biochemical parameters of patients with late-onset cblC disease were found to be alleviated. Conclusion: In our late-onset cblC disease cases, lower limb weakness, psychiatric disturbances, and gait instability were the most frequent manifestations. Patients responded well to the drug treatments with hydrocobalamin and betaine. When juvenile or adult patients with hyperhomocysteinemia present with neurological symptoms, cblC disease needs to be considered. Keywords: methylmalonic aciduria, homocysteine, late-onset, neuropsychiatric, cobalamin
format	article
author	Wang S Yan C Wen B Zhao Y
author_facet	Wang S Yan C Wen B Zhao Y
author_sort	Wang S
title	Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series
title_short	Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series
title_full	Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series
title_fullStr	Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series
title_full_unstemmed	Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series
title_sort	clinical feature and outcome of late-onset cobalamin c disease patients with neuropsychiatric presentations: a chinese case series
publisher	Dove Medical Press
publishDate	2019
url	https://doaj.org/article/f825d543aa1842bea87c67d585471bcd
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Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series

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