Baskar Dipti, Christopher Rita, Arunachal Gautham, Anudeep Davuluri Durga Srinivas, Mounika Ambati, Sangeeth T A, Polavarapu Kiran, Shalini B S, Joshi Tarachand, Sanka Sai Bhargava, Nashi Saraswati, Raja Pritam, Chowdary Ravindranadh Mundlamuri, Yadav Ravi, Nalini Atchayaram, Vengalil Seena
Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.
Integrative Medical Research, PES University Institute of Medical Sciences and Research, Bengaluru and Former Dean (Basic Sciences) & Senior Professor (Retired), Department of Neurochemistry National Institute of Mental Health & Neuro Sciences (NIMHANS) Bengaluru 560029, India.
Glob Med Genet. 2025 Jan 10;12(2):100036. doi: 10.1016/j.gmg.2025.100036. eCollection 2025 Jun.
Glutaric aciduria type-1 (GA-1) is a rare metabolic disorder due to mutation in 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 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.
戊二酸血症1型（GA - 1）是一种罕见的代谢紊乱疾病，由基因突变引起，临床表现多样。在此，我们报告一例迟发性GA - 1，伴有急性骨髓神经病和慢性肾衰竭。已获得机构伦理委员会批准，并通过临床外显子组测序进行基因分析。我们在此介绍一名19岁青少年男性，患有2年慢性肾病，出现近端和远端下肢突发无力及膀胱潴留5个月病史，此前有反复呕吐发作。临床检查显示他有骨髓神经病的特征。实验室评估显示血戊二酰肉碱显著升高，游离肉碱极低，而脑磁共振成像显示广泛的白质信号改变伴弥散受限、室管膜下结节及内囊受累。临床外显子组测序证实诊断，该测序显示基因第11外显子存在致病性纯合错义突变（c.120 C>T，p.His403Tyr）。本报告将GA - 1的表型谱扩展至包括伴有慢性肾衰竭的迟发性急性骨髓神经病。由于早期治疗可能减缓疾病进一步进展，因此需要高度怀疑。
