A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China

Journal of the Neurological Sciences
Xianling WangCunjiang Li

Abstract

Combined methylmalonic aciduria and homocystinuria, cblC type (cblC disease), is the most common inborn disorder of cobalamin metabolism. This disorder is caused by MMACHC gene mutations, and it is usually diagnosed in the early neonatal period. Late-onset cblC is rare and difficult to recognize due to a wide diversity of symptoms. Three cases with late-onset combined methylmalonic aciduria and homocystinuria, cblC type, are reported; patients' clinical presentation, imaging and MMACHC gene mutations were analyzed. The age of onset in the three patients was 22 years, 40 years and 7 years of age. Two of the patients had MMACHC gene mutations heterozygous for c.609G>A and c.482G>A (case 1 and case 3). The other patient (case 2) presented with gene mutations heterozygous for c.609G>A and c.1A>G. The three patients presented with a heterogeneous clinical picture, including cognitive impairment, epilepsy, ataxia, pyramidal and peripheral nerve symptoms. Cerebral atrophy and bilateral hyperintensity in the deep white matter were visible in MRI scans of the patients' brains; those were significant findings in the three patients with late-onset cblC disease. In contrast with previous reports, bilateral cerebellar cortex abnormalities w...Continue Reading

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Citations

Feb 13, 2015·Rinshō shinkeigaku = Clinical neurology·Mikie YamamotoKenji Nakashima
Aug 6, 2014·Journal of Neurology, Neurosurgery, and Psychiatry·Yan-Ru LiuHong Lu
Mar 7, 2015·Molecular Genetics and Metabolism·James D Weisfeld-AdamsScott C Oliver
Jan 28, 2018·Metabolic Brain Disease·Sheng-Jun WangYu-Ying Zhao
Dec 18, 2012·Clinical Chemistry and Laboratory Medicine : CCLM·Luciana HannibalDonald W Jacobsen
Jan 17, 2020·Aging Medicine·Dantao PengUNKNOWN Clinical Practice Guideline for Cognitive Impairment of Cerebral Small Vessel Disease Writing Group
Dec 17, 2020·Frontiers in Neurology·Xujun ChuYun Yuan
Jun 3, 2021·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Rebecca M SenaNora I Perrone-Bizzozero
Aug 16, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Yanping Wei, Honglin Hao

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