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Article

Spinal Cord Involvement in Patients with Adult-Onset Multiple Acyl-CoA Dehydrogenase Deficiency.

Neuromolecular medicine - 30 Jan 2026

Wang Wei, Zhu Min, Zhong Yunwen, Wang Lu, Qiu Yusen, Jiang Kaiyan, Xiong Ying, Huang Pengcheng, Fang Xin, Zhou Meihong, Tan Dandan, Hong Daojun

Abstract excerpt

Riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (RR-MADD) is an inherited metabolic disorder which is good responsive to riboflavin treatment. The phenotypic spectrum of adult-onset RR-MADD is highly heterogeneous. In this study, we described three patients with adult-onset RR-MADD presented with muscle weakness and spinal cord involvement. These three patients presented with adult-onset limb...

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Identifiers

PMID: 41615582
DOI: 10.1007/s12017-025-08904-7

Genes

MADD
ETFDH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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