相关细胞内钴胺素缺陷的快速诊断和精准管理报告。
Report of rapid diagnosis and precise management of related intracellular cobalamin defect.
机构信息
Medical Genetics, Kasturba Medical College Manipal, Manipal, Karnataka, India.
Medical Genetics, Kasturba Medical College Manipal, Manipal, Karnataka, India
出版信息
BMJ Case Rep. 2021 Jun 3;14(6):e239755. doi: 10.1136/bcr-2020-239755.
Abstract
Disorders of intracellular cobalamin metabolism are a group of metabolic disorders that lead to varied clinical presentation from intrauterine life to adulthood. We report a male infant with developmental regression, macrocytic anaemia and hyperpigmentation. Exome sequencing identified a homozygous pathogenic variant in the gene, known to cause homocystinuria, cblD type (MIM #277410). We describe significant clinical improvement with targeted therapy and emphasise the relevance of genomic testing in accurate management of inherited metabolic disorders.
摘要
细胞内钴胺素代谢紊乱是一组代谢紊乱，可导致从宫内生命到成年期的各种临床表现。我们报告了一例男性婴儿，表现为发育倒退、巨幼细胞性贫血和色素沉着过度。外显子组测序发现了一个 基因的纯合致病性变异，该基因已知可导致同型胱氨酸尿症 cblD 型（MIM #277410）。我们描述了靶向治疗的显著临床改善，并强调了基因组检测在遗传性代谢紊乱的准确管理中的相关性。
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