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

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

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 anal...

Full description

Saved in:
Bibliographic Details
Main 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
Format: Article
Language:English
Published: KeAi Communications Co., Ltd. 2025-06-01
Series:Global Medical Genetics
Subjects:
Glutaric aciduria type-1
GCDH gene
Myeloneuropathy
India
Online Access:http://www.sciencedirect.com/science/article/pii/S2699940425000372
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

http://www.sciencedirect.com/science/article/pii/S2699940425000372

Similar Items