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Article

Hyperargininemic Encephalopathy with Unique Clinical Presentation and Novel Genetic Mutations.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP - 1 May 2020

Nagarjunakonda Sundarachary, Daggumati Rajeswari, Amalakanti Sridhar

Abstract excerpt

Hyperargininemia is a urea cycle disorder that has rarely been reported in adults. We present a case of arginase deficiency disorder in a 32-year man with metabolic encephalopathy. He presented with progressive limb spasticity, changes in personality, cognitive decline (impaired judgement, executive and language dysfunction) and pseudo-bulbar affect. He deteriorated to an akinetic mute and rigid state. MRI brain...

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Identifiers

PMID: 32580855
DOI: 10.29271/jcpsp.2020.05.535

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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