Article

Acute myeloneuropathy due to Glutaric aciduria-1: expanding the phenotypic spectrum.

2023-12-28

Abstract excerpt

<title>Abstract</title> <p>Background: Glutaric aciduria type-1 (GA-1) is a rare metabolic disorder due to mutation in <italic>GCDH</italic> gene resulting in varied clinical manifestations. Here we report a case of adult-onset GA-1 with acute myelo-neuropathy and chronic renal failure. Institutional ethics committee approval was obtained and genetic analysis was done by clinical exome sequencing. Case presentati...

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Literature Corpus work: 46531121-1f88-5092-b1a8-d6d6ef494035
DOI: 10.21203/rs.3.rs-3740386/v1

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