Argininemia.

S E Snyderman; C Sansaricq; W J Chen; P M Norton; S V Phansalkar

doi:10.1016/s0022-3476(77)80367-3

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Argininemia.

S E Snyderman·C Sansaricq·W J Chen·P M Norton·S V Phansalkar

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Abstract

The clinical features of argininemia in two cousins included hyperactivity, spasticity, ataxia, retardation, and repeated attacks of hyperammonemia. Study of a large kindred suggests that arginase-deficiency is transmitted as a Mendelian recessive. Treatment with an essential amino acid mixture with the total nitrogen intake limited to the requirement, controlled the hyperammonemia, reduced the plasma arginine level, and permitted a marked clinical improvement. There has been a significant increase in intelligence levels; the previously retarded children are now approaching the normal range of function.

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Amino Acid Metabolism, Inborn Errors Amino Acids Arginase Arginine Child, Preschool Chromosome Aberrations Chromosome Disorders Erythrocytes Female Genes, Recessive Humans Hyperargininemia Infant Male Pedigree Case Reports Journal Article Research Support, U.S. Gov't, Non-P.H.S.

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S E Snyderman, C Sansaricq, W J Chen, P M Norton, S V Phansalkar. 1977. Argininemia.. https://doi.org/10.1016/s0022-3476(77)80367-3

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