The role of orotic acid measurement in routine newborn screening for urea cycle disorders

2020 ◽  
Author(s):  
Orna Staretz‐Chacham ◽  
Suha Daas ◽  
Igor Ulanovsky ◽  
Ayala Blau ◽  
Nira Rostami ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Orotic Acid ◽  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Cycle Disorders

scholarly journals Current role of liver transplantation for the treatment of urea cycle disorders: A review of the worldwide English literature and 13 cases at Kyoto University

2005 ◽  
Vol 11 (11) ◽  
pp. 1332-1342 ◽  
Author(s):  
Daisuke Morioka ◽  
Mureo Kasahara ◽  
Yasutsugu Takada ◽  
Yasumasa Shirouzu ◽  
Kaoru Taira ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Urea Cycle ◽  
English Literature ◽  
Urea Cycle Disorders ◽  
Current Role ◽  
Cycle Disorders

Newborn Screening for Urea Cycle Disorders

PEDIATRICS ◽  
1981 ◽  
Vol 68 (3) ◽  
pp. 453-457
Author(s):  
Edwin W. Naylor
Keyword(s):  
Newborn Screening ◽  
Mass Screening ◽  
Filter Paper ◽  
Screening Test ◽  
Urea Cycle ◽  
Newborn Infants ◽  
Urea Cycle Disorders ◽  
Blood Specimens ◽  
Cycle Disorders ◽  
Simple Screening

Mass screening of newborn infants for inherited metabolic disorders began in the early 1960s with the development of the Guthrie bacterial inhibition assay for the detection of phenylketonuria (PKU).117 This simple assay utilizing dried filter paper blood specimens collected by heel prick from newborn infants has resulted in mass screening for PKU throughout most of the world. The field of newborn screening, however, has not remained limited to search for patients with PKU. It has evolved into an exciting area of preventive medicine which has seen the introduction of additional bacterial inhibition assays for other inborn errors of metabolism,118-120 automation of the screening laboratories,121 and multistate regionalization of screening programs.122 This field has also seen the introduction of other specimens for mass screening including the use of cord blood, follow-up blood specimens,122 and urine specimens collected on filter paper.123,124 In order to obtain an optimum number of specimens, the multitest laboratory might be a centralized laboratory serving a single large state or a regional laboratory serving a newborn population of several smaller states.125 APPROACHES TO UREA CYCLE SCREENING In the development of any screening test, there are a number of different parameters that may be examined. An investigator may choose to develop a simple screening test which measures the presence or absence of an enzyme or he may choose one which measures the accumulation of a substrate or secondary metabolic product. In the case of urea cycle disorders, there are a number of important markers that can be used as the basis for developing simple screening tests.

scholarly journals Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders

2020 ◽  
Vol 131 (4) ◽  
pp. 390-397
Author(s):  
Roland Posset ◽  
Stefan Kölker ◽  
Florian Gleich ◽  
Jürgen G. Okun ◽  
Andrea L. Gropman ◽  
...  
Keyword(s):  
Metabolic Disease ◽  
Newborn Screening ◽  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Disease Course ◽  
Cycle Disorders

Hyperammonemia in urea cycle disorders: Role of the nephrologist

2001 ◽  
Vol 37 (5) ◽  
pp. 1069-1080 ◽  
Author(s):  
Robert S. Mathias ◽  
Dana Kostiner ◽  
Seymour Packman
Keyword(s):  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Cycle Disorders

Current role of enzyme analysis for urea cycle disorders

2016 ◽  
Vol 04 (01) ◽  
pp. 023-032 ◽  
Author(s):  
Matthias Gautschi ◽  
Sandra Eggimann ◽  
Jean-Marc Nuoffer
Keyword(s):  
Urea Cycle ◽  
Enzyme Analysis ◽  
Urea Cycle Disorders ◽  
Current Role ◽  
Cycle Disorders
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