title: 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.
authors: Department of Pediatrics, Division of Genetics, Wayne State University School of Medicine, 3901 Beaubien, Detroit, MI, 48201-2119, USA. ajay@dmc.org.|Department of Genetics, DMC Children's Hospital of Michigan, 5A, 3901 Beaubien Blvd, Detroit, MI, 48201-2119, USA. ajay@dmc.org.
authors: Allison
authors: A
authors: Jay
authors: Newborn Screening Section, Michigan Department of Community Health, Bureau of Laboratories, Chemistry and Toxicology, 3350 N. MLK Jr. Blvd., Lansing, MI, 48906, USA.
authors: Mary
authors: M
authors: Seeterlin
authors: Newborn Screening Section, Michigan Department of Community Health, Bureau of Laboratories, Chemistry and Toxicology, 3350 N. MLK Jr. Blvd., Lansing, MI, 48906, USA.
authors: Eleanor
authors: E
authors: Stanley
authors: , 313 Briargrove, Crockett, Texas, 75835, USA.
authors: Robert
authors: R
authors: Grier