Dataset Information

Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS).

ABSTRACT: We describe a case of Argininemia detected by Michigan Newborn Screening (NBS). The Secretary's Advisory Committee on Heritable Disorders in Newborns and Children recommends that every MS/MS newborn screening program include Argininemia as part of their uniform screening panel. While affected infants will be detected by this testing, Arginine levels may take time to accumulate. Thus, some infants may not be detected by this methodology and early sample collection. In Michigan, since initiating testing for Argininemia in 2006, there has been workup of 23 cases for elevated Arginine identified by NBS, with one case identified as affected. We report this affected case. Subsequently, the Arginine/Ornithine ratio was calculated for all cases and was found to be informative with respect to predicting whether a patient is affected by Argininemia.

SUBMITTER: Jay A

PROVIDER: S-EPMC3565661 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS).

Jay Allison A Seeterlin Mary M Stanley Eleanor E Grier Robert R

JIMD reports 20121102

We describe a case of Argininemia detected by Michigan Newborn Screening (NBS). The Secretary's Advisory Committee on Heritable Disorders in Newborns and Children recommends that every MS/MS newborn screening program include Argininemia as part of their uniform screening panel. While affected infants will be detected by this testing, Arginine levels may take time to accumulate. Thus, some infants may not be detected by this methodology and early sample collection. In Michigan, since initiating t ...[more]

PMID: 23430558

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Project description:We hypothesized that the enzyme arginase-1 is released into the cerebrospinal fluid (CSF) during red blood cell lysis and contributes to dysregulated metabolism of the nitric oxide (NO) precursor L-arginine during aneurysmal subarachnoid hemorrhage (SAH). This prospective case-control study included 43 patients with aneurysmal SAH and ventricular drainage for clinical reasons. Longitudinal CSF samples (99) were obtained in the course of SAH. Patients were dichotomized regarding the occurrence of cerebral vasospasm syndrome (CVS) (N = 19). Arginase-1 and the amino acids L-arginine and L-ornithine were quantified in CSF. Outcome assessments included delayed cerebral ischemia (DCI) and functional status after 3 months using the modified Rankin Scale (mRS). Arginase-1 was released into the CSF of SAH patients whereas this enzyme was undetectable in controls. Compared to patients without CVS, arginase-1 levels were higher in CVS patients until day 14 after clinical event. The well-known surrogate parameter for arginase acitivity, the L-arginine to L-ornithine ratio (Arg/Orn), correlated with CSF arginase-1 levels. Arg/Orn was reduced in patients with CVS from disease onset (days 1-3, p = 0.0009) until day 14. Logistic regression analysis of early Arg/Orn was predictive for CVS (p = 0.008) and DCI (p = 0.035), independent of age, Hunt and Hess grade, and intraventricular blood. Arg/Orn < 2.71 at disease onset predicted CVS with a sensitivity of 86.7% and specificity of 72.2%. Arg/Orn ≥ 2.71 predicted excellent functional outcome. We propose a novel mechanism contributing to NO deprivation during SAH: arginase-1 is released from erythrocytes into the CSF, leading to L-arginine consumption and reduced NO bioavailability. Furthermore, Arg/Orn is a robust predictor for occurrence of CVS, DCI, and functional outcome 3 months after aneurysmal SAH. Our data provide a novel prognostic biomarker and may contribute to the development of novel therapeutic strategies in SAH. Clinical Trial Registration-URL: http://www.drks.de . Unique identifier: DRKS00015293, date of registration: 13.09.2018.

Dataset Information

Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS).

Publications

Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS).

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