PMID- 23430558
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20130225
LR  - 20211021
IS  - 2192-8304 (Print)
IS  - 2192-8312 (Electronic)
IS  - 2192-8304 (Linking)
VI  - 9
DP  - 2013
TI  - Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for 
      Newborn Screening (NBS).
PG  - 121-124
LID - 10.1007/8904_2012_190 [doi]
AB  - 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.
FAU - Jay, Allison
AU  - Jay A
AD  - Department of Pediatrics, Division of Genetics, Wayne State University School of 
      Medicine, 3901 Beaubien, Detroit, MI, 48201-2119, USA. ajay@dmc.org.
AD  - Department of Genetics, DMC Children's Hospital of Michigan, 5A, 3901 Beaubien 
      Blvd, Detroit, MI, 48201-2119, USA. ajay@dmc.org.
FAU - Seeterlin, Mary
AU  - Seeterlin M
AD  - Newborn Screening Section, Michigan Department of Community Health, Bureau of 
      Laboratories, Chemistry and Toxicology, 3350 N. MLK Jr. Blvd., Lansing, MI, 
      48906, USA.
FAU - Stanley, Eleanor
AU  - Stanley E
AD  - Newborn Screening Section, Michigan Department of Community Health, Bureau of 
      Laboratories, Chemistry and Toxicology, 3350 N. MLK Jr. Blvd., Lansing, MI, 
      48906, USA.
FAU - Grier, Robert
AU  - Grier R
AD  - , 313 Briargrove, Crockett, Texas, 75835, USA.
LA  - eng
PT  - Journal Article
DEP - 20121102
PL  - United States
TA  - JIMD Rep
JT  - JIMD reports
JID - 101568557
PMC - PMC3565661
EDAT- 2013/02/23 06:00
MHDA- 2013/02/23 06:01
PMCR- 2012/11/02
CRDT- 2013/02/23 06:00
PHST- 2012/07/11 00:00 [received]
PHST- 2012/10/02 00:00 [accepted]
PHST- 2012/10/01 00:00 [revised]
PHST- 2013/02/23 06:00 [entrez]
PHST- 2013/02/23 06:00 [pubmed]
PHST- 2013/02/23 06:01 [medline]
PHST- 2012/11/02 00:00 [pmc-release]
AID - 190 [pii]
AID - 10.1007/8904_2012_190 [doi]
PST - ppublish
SO  - JIMD Rep. 2013;9:121-124. doi: 10.1007/8904_2012_190. Epub 2012 Nov 2.