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

Bibliographic Details
Title:	Acute myeloneuropathy due to Glutaric aciduria-1: Expanding the phenotypic spectrum
Authors:	Dipti Baskar, Rita Christopher, Gautham Arunachal, Davuluri Durga Srinivas Anudeep, Ambati Mounika, TA Sangeeth, Kiran Polavarapu, BS Shalini, Tarachand Joshi, Sai Bhargava Sanka, Saraswati Nashi, Pritam Raja, Ravindranadh Mundlamuri Chowdary, Ravi Yadav, Atchayaram Nalini, Seena Vengalil
Source:	Global Medical Genetics, Vol 12, Iss 2, Pp 100036- (2025)
Publisher Information:	KeAi Communications Co., Ltd., 2025.
Publication Year:	2025
Collection:	LCC:Genetics LCC:Neoplasms. Tumors. Oncology. Including cancer and carcinogens
Subject Terms:	Glutaric aciduria type-1, GCDH gene, Myeloneuropathy, India, Genetics, QH426-470, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
More Details:	Glutaric aciduria type-1 (GA-1) is a rare metabolic disorder due to mutation in GCDH gene resulting in varied clinical manifestations. Here we report a case of late-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. Here we present 19 year-old-adolescent male with chronic renal disease for 2 years presented with 5 months history of sudden onset weakness of proximal and distal lower limbs and bladder retention. This was preceded by recurrent episodes of vomiting. On clinical examination he had features of myeloneuropathy. Laboratory evaluation showed significant elevation of blood glutaryl carnitine with very low free carnitine, while extensive white matter signal changes with diffusion restriction, subependymal nodules and involvement of internal capsule were evidenced on brain magnetic resonance imaging. Diagnosis was confirmed by clinical exome sequencing which showed a pathogenic homozygous missense mutation in exon 11 of GCDH gene (c .120 C>T, p.His403Tyr). This report expands phenotypic spectrum of GA-1 to include late onset acute myelo-neuropathy with chronic renal failure. A high index of suspicion is required since early treatment might decelerate further disease progression.
Document Type:	article
File Description:	electronic resource
Language:	English
ISSN:	2699-9404
Relation:	http://www.sciencedirect.com/science/article/pii/S2699940425000372; https://doaj.org/toc/2699-9404
DOI:	10.1016/j.gmg.2025.100036
Access URL:	https://doaj.org/article/7e756c3ba16d4510bc97db06508b315f
Accession Number:	edsdoj.7e756c3ba16d4510bc97db06508b315f
Database:	Directory of Open Access Journals

More Details
ISSN:	26999404
DOI:	10.1016/j.gmg.2025.100036
Published in:	Global Medical Genetics
Language:	English