scholarly journals Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen

2016 ◽  
pp. 43-47 ◽  
Author(s):  
Rebecca D. Ganetzky ◽  
Emma Bedoukian ◽  
Matthew A. Deardorff ◽  
Can Ficicioglu
Keyword(s):  
Lyase Deficiency ◽  
Newborn Screen ◽  
Argininosuccinic Acid

A Neonatal Screening Test for Argininosuccinic Acid Lyase Deficiency and Other Urea Cycle Disorders

PEDIATRICS ◽  
1982 ◽  
Vol 70 (4) ◽  
pp. 526-531
Author(s):  
Henry W. Talbot ◽  
Adam B. Sumlin ◽  
Edwin W. Naylor ◽  
Robert Guthrie
Keyword(s):  
Screening Test ◽  
Multiple Testing ◽  
Large Scale ◽  
Urea Cycle ◽  
Newborn Infants ◽  
Urea Cycle Disorders ◽  
Gyrate Atrophy ◽  
Lyase Deficiency ◽  
Cycle Disorders ◽  
Argininosuccinic Acid

A simple enzyme-multiple auxotroph assay has been developed for the identification of newborn infants with several of the inherited metabolic defects in the Krebs cycle for the detoxification of ammonia and in the ornithine metabolic pathway. This mass screening test is used with dried filter paper blood specimens and can easily be added to existing multiple testing programs presently used in screening for phenylketonuria or congenital hypothyroidism. This assay can be used to detect patients with citrullinemia, argininosuccinic acid lyase deficiency, and argininemia. In addition to these urea cycle disorders, the several types of ornithinemia, which can result in gyrate atrophy of the retina or mental retardation, should be detectable with this assay. The strengths and weaknesses of this assay are discussed and a large-scale pilot screening trial is proposed.

The need for vigilance: False-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers

2013 ◽  
Vol 46 (18) ◽  
pp. 1899-1901 ◽  
Author(s):  
Jakub Krijt ◽  
Vaclava Skopova ◽  
Vaclava Adamkova ◽  
Renata Cermakova ◽  
Agnieszka Jurecka ◽  
...  
Keyword(s):  
False Negative ◽  
Urinary Biomarkers ◽  
Adenylosuccinate Lyase ◽  
Lyase Deficiency ◽  
Adenylosuccinate Lyase Deficiency

Isolated 17, 20 Lyase Deficiency Secondary to a Novel CYB5A Variant: Comparison of Steroid Metabolomic Findings with Published Cases Provides Diagnostic Guidelines and Greater Insight into Its Biological Role

2020 ◽  
Vol 93 (7-8) ◽  
pp. 483-496
Author(s):  
Meera Shaunak ◽  
Norman F. Taylor ◽  
David Hunt ◽  
Justin H. Davies
Keyword(s):  
Mass Spectrometry ◽  
Ambiguous Genitalia ◽  
Relative Increase ◽  
Testicular Microlithiasis ◽  
Lyase Deficiency ◽  
Chain Cleavage ◽  
Steroid Profiles ◽  
Steroid Analysis ◽  
17 Hydroxyprogesterone ◽  
Urine Steroid

Objective: The objective of this study was to report CYB5A deficiency, to discuss the contribution of steroid metabolomics to diagnosis and interpretation, and to highlight the presence of testicular microlithiasis. Methods: Two siblings with ambiguous genitalia at birth were later found to carry novel CYB5A variants, with resulting isolated 17, 20 lyase deficiency. We compared urine steroid data obtained between birth and adulthood with that from other cases. Results: Neonatal urine steroid profiles show a relative increase of 16-hydroxylated pregnenolone metabolites. Thereafter, there are no distinguishing features until puberty, when sex steroid deficiency drives gonadotrophin production, resulting in marked increases of 17-hydroxyprogesterone metabolites derived from the gonads. This excess may be revealed pre-pubertally by gonadotrophin stimulation testing. Novel findings are first, a considerable capacity for DHEA synthesis in the neonatal period compared to childhood and adulthood, suggesting that DHEAS production is much less dependent on CYB5A at birth; second, no consistent change in “backdoor pathway” intermediates; third, side chain cleavage of cortisol is largely unaffected, supporting the existence of a different lyase not dependent on CYB5A; fourth, increased 17-hydroxyprogesterone metabolites and very low androgen metabolites are diagnostic post-pubertally. Conclusion: This is the fourth disease-causing variant in CYB5A in isolated 17, 20 lyase deficiency and the first associated with testicular microlithiasis. Establishing a biochemical diagnosis pre-pubertally should now be possible using urine steroid profiling, supported by synacthen and gonadotrophin stimulation testing. We recommend liquid chromatography-mass spectrometry/mass spectrometry rather than immunoassay for serum steroid analysis, early methaemoglobin measurement and surveillance should testicular microlithiasis be detected.

Novel CYP17A1 mutation in a Japanese patient with combined 17α-hydroxylase/17,20-lyase deficiency

Metabolism ◽  
2010 ◽  
Vol 59 (2) ◽  
pp. 275-278 ◽  
Author(s):  
Noriyuki Katsumata ◽  
Eishin Ogawa ◽  
Ikuma Fujiwara ◽  
Kaori Fujikura
Keyword(s):  
Japanese Patient ◽  
Lyase Deficiency

Prenatal diagnosis in adenylosuccinate lyase deficiency

2000 ◽  
Vol 20 (1) ◽  
pp. 33-36 ◽  
Author(s):  
Sandrine Marie ◽  
Jolanda W. A. M. Flipsen ◽  
Marinus Duran ◽  
Bwee Tien Poll-The ◽  
Fritz A. Beemer ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Adenylosuccinate Lyase ◽  
Lyase Deficiency ◽  
Adenylosuccinate Lyase Deficiency

Aicardi‐Goutières syndrome may present with positive newborn screen for X‐linked adrenoleukodystrophy

2021 ◽  
Author(s):  
Christina G. Tise ◽  
Jose Andres Morales ◽  
Ariel S. Lee ◽  
Frances Velez‐Bartolomei ◽  
Brendan J. Floyd ◽  
...  
Keyword(s):  
Newborn Screen

Corticospinal Tract Involvement in a Patient With 3-HMG Coenzyme A Lyase Deficiency

2006 ◽  
Vol 35 (2) ◽  
pp. 139-141 ◽  
Author(s):  
Yüksel Yýlmaz ◽  
Nihal Özdemir ◽  
Gazanfer Ekinci ◽  
Tolunay Baykal ◽  
Canan Kocaman
Keyword(s):  
Corticospinal Tract ◽  
Coenzyme A ◽  
Lyase Deficiency ◽  
Tract Involvement

Molecular basis of hypokalemic myopathy caused by 17 -hydroxylase/17,20-lyase deficiency

Neurology ◽  
1998 ◽  
Vol 51 (6) ◽  
pp. 1748-1751 ◽  
Author(s):  
J.-i. Satoh ◽  
Y. Kuroda ◽  
H. Nawata ◽  
T. Yanase
Keyword(s):  
Molecular Basis ◽  
Lyase Deficiency ◽  
Hypokalemic Myopathy
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