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Case Reports
. 2021 Mar;88(3):266-268.
doi: 10.1007/s12098-020-03466-x. Epub 2020 Aug 8.

Neurological Deterioration in Three Siblings: Exploring the Spectrum of Argininemia

Divyani Garg  1 , Sunita Bijarnia-Mahay  2 , Aman Elwadhi  3 , Sandip Ray  3 , Johannes Häberle  4 , Suvasini Sharma  5
Affiliations
Case Reports

Neurological Deterioration in Three Siblings: Exploring the Spectrum of Argininemia

Divyani Garg et al. Indian J Pediatr. 2021 Mar.

Abstract

Argininemia or hyperargininemia is a urea cycle disorder caused by deficiency of the enzyme arginase 1. It is inherited in an autosomal recessive fashion. It commonly leads to spastic diplegia in childhood, but other important features include cognitive deterioration and epilepsy. Unlike other disorders of the urea cycle, hyperammonemia is not prominent. The authors report three siblings with genetically proven argininemia who presented with diverse phenotypes but with spasticity being a common feature. Sibling 1 developed motor regression in early childhood, sibling 2 developed delayed motor milestones from early infancy, whereas sibling 3 had global developmental delay in late infancy after a period of normal development. All siblings had mild hyperammonemia only. Early recognition is imperative, not only to initiate ammonia scavenging therapy which may lead to definite clinical improvement, but also to provide genetic counselling.

Keywords: Arginase deficiency; Argininemia; Spastic diplegia; Urea cycle disorders.

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