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Favorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiency.

ABSTRACT: This chapter reports on the sequelae-free 8-year follow-up with normal growth, intellectual development, and schooling of a boy with argininosuccinate synthetase deficiency (citrullinemia type I) who was rescued from severe neonatal hyperammonemic coma at 8 days of life (peak ammonia level of 1,058 ?mol/L). Important clinical management aspects were: rapidity of response to emergency therapeutic measures that included specific drug regimen, protein restriction, optimal caloric intake and hemodialysis, short coma duration (14 h), possible neuroprotective effect of mild systemic hypothermia during the acute episode, long-term metabolic control with strict compliance to standard of care therapeutic and dietary regimens, active prevention of subsequent hyperammonemic episodes, and early neurodevelopmental evaluations and interventions. We conclude that good long-term neurological outcome following rescue from neonatal hyperammonemic coma is rarely reported but attainable. Prospective registries and interventional studies regrouping clinical data from urea cycle disorders patients will assist clinicians in instituting the appropriate therapeutic measures to provide the best prospect of positive long-term outcome for these children.

SUBMITTER: De Bie I

PROVIDER: S-EPMC3509823 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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Favorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiency.

De Bie Isabelle I Lemyre Emmanuelle E Lambert Marie M

JIMD reports 20110622

This chapter reports on the sequelae-free 8-year follow-up with normal growth, intellectual development, and schooling of a boy with argininosuccinate synthetase deficiency (citrullinemia type I) who was rescued from severe neonatal hyperammonemic coma at 8 days of life (peak ammonia level of 1,058 μmol/L). Important clinical management aspects were: rapidity of response to emergency therapeutic measures that included specific drug regimen, protein restriction, optimal caloric intake and hemodia ...[more]

PMID: 23430833

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Project description:The urea cycle consists of six consecutive enzymatic reactions that convert waste nitrogen into urea. Deficiencies of any of these enzymes of the cycle result in urea cycle disorders (UCD), a group of inborn errors of hepatic metabolism that often result in life threatening hyperammonemia. Argininosuccinate lyase (ASL) is a cytosolic enzyme which catalyzes the fourth reaction in the cycle and the first degradative step, that is, the breakdown of argininosuccinic acid to arginine and fumarate. Deficiency of ASL results in an accumulation of argininosuccinic acid in tissues, and excretion of argininosuccinic acid in urine leading to the condition argininosuccinic aciduria (ASA). ASA is an autosomal recessive disorder and is the second most common UCD. In addition to the accumulation of argininosuccinic acid, ASL deficiency results in decreased synthesis of arginine, a feature common to all UCDs except argininemia. Arginine is not only the precursor for the synthesis of urea and ornithine as part of the urea cycle but it is also the substrate for the synthesis of nitric oxide, polyamines, proline, glutamate, creatine, and agmatine. Hence, while ASL is the only enzyme in the body able to generate arginine, at least four enzymes use arginine as substrate: arginine decarboxylase, arginase, nitric oxide synthetase (NOS) and arginine/glycine aminotransferase. In the liver, the main function of ASL is ureagenesis, and hence, there is no net synthesis of arginine. In contrast, in most other tissues, its role is to generate arginine that is designated for the specific cell's needs. While patients with ASA share the acute clinical phenotype of hyperammonemia, encephalopathy, and respiratory alkalosis common to other UCD, they also present with unique chronic complications most probably caused by a combination of tissue specific deficiency of arginine and/or elevation of argininosuccinic acid. This review article summarizes the clinical characterization, biochemical, enzymatic, and molecular features of this disorder. Current treatment, prenatal diagnosis, diagnosis through the newborn screening as well as hypothesis driven future treatment modalities are discussed.

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Favorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiency.

Publications

Favorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiency.

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