Neurological Deterioration in Three Siblings: Exploring the Spectrum of Argininemia.

doi:10.1007/s12098-020-03466-x

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Article

Neurological Deterioration in Three Siblings: Exploring the Spectrum of Argininemia.

Indian journal of pediatrics - 1 Mar 2021

Garg Divyani, Bijarnia-Mahay Sunita, Elwadhi Aman, Ray Sandip, Häberle Johannes, Sharma Suvasini

Abstract excerpt

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...

Topics

Arginase
Child, Preschool
Humans
Hyperammonemia
Hyperargininemia
Phenotype
Siblings

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PMID: 32770317
DOI: 10.1007/s12098-020-03466-x

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