Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene

2000 ◽  
Vol 23 (4) ◽  
pp. 308-312 ◽  
Author(s):  
M. Linnebank ◽  
A. Homberger ◽  
B. Rapp ◽  
C. Winter ◽  
T. Marquardt ◽  
...  
Keyword(s):  
Argininosuccinate Lyase ◽  
Novel Mutations ◽  
Lyase Deficiency

Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea

2018 ◽  
Vol 63 (8) ◽  
pp. 911-917 ◽  
Author(s):  
Dahye Kim ◽  
Jung Min Ko ◽  
Yoon-myung Kim ◽  
Go Hun Seo ◽  
Gu-Hwan Kim ◽  
...  
Keyword(s):  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Argininosuccinate Lyase ◽  
Lyase Deficiency ◽  
Cycle Disorders ◽  
Low Prevalence

Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency

2006 ◽  
Vol 88 (1) ◽  
pp. 100-102 ◽  
Author(s):  
P.E. Sijens ◽  
D.-J. Reijngoud ◽  
R.J. Soorani-Lunsing ◽  
M. Oudkerk ◽  
F.J. van Spronsen
Keyword(s):  
Mr Spectroscopy ◽  
Argininosuccinate Lyase ◽  
Lyase Deficiency ◽  
1H Mr Spectroscopy

scholarly journals Two Novel Mutations in the Argininosuccinate Lyase Gene in Iranian Patients and Literature Review

2017 ◽  
Vol 27 (3) ◽  
Author(s):  
Parastoo Rostami ◽  
Johannes Häberle ◽  
Arya Setoudeh ◽  
Johannes Zschocke ◽  
Fatemeh Sayarifard
Keyword(s):  
Literature Review ◽  
Argininosuccinate Lyase ◽  
Novel Mutations ◽  
Iranian Patients

scholarly journals Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension

2018 ◽  
Vol 103 (2) ◽  
pp. 276-287 ◽  
Author(s):  
Jordan Kho ◽  
Xiaoyu Tian ◽  
Wing-Tak Wong ◽  
Terry Bertin ◽  
Ming-Ming Jiang ◽  
...  
Keyword(s):  
Argininosuccinate Lyase ◽  
Lyase Deficiency ◽  
Dependent Form

scholarly journals Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency

2019 ◽  
Vol 2019 ◽  
pp. 1-7
Author(s):  
Mei Zhao ◽  
Lingling Hou ◽  
Huajing Teng ◽  
Jinchen Li ◽  
Jiesi Wang ◽  
...  
Keyword(s):  
Enzymatic Activity ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Compound Heterozygous ◽  
Significant Activity ◽  
Argininosuccinate Lyase ◽  
Chinese Han ◽  
Lyase Deficiency ◽  
Pathogenic Variants ◽  
Whole Exome

Pathogenic variants in the argininosuccinate lyase (ASL) gene have been shown to cause argininosuccinate lyase deficiency (ASLD); therefore, sequencing analysis offers advantages for prenatal testing and counseling in families afflicted with this condition. Here, we performed a genetic analysis of an ASLD patient and his family with an aim to offer available information for clinical diagnosis. The research subjects were a 23-month-old patient with a high plasma level of citrulline and his unaffected parents. Whole-exome sequencing identified potential related ASL gene mutations in this trio. Enzymatic activity was detected spectrophotometrically by a coupled assay using arginase and measuring urea production. We identified a novel nonsynonymous mutation (c.206A>G, p.Lys69Arg) and a stop mutation (c.637C>T, p.Arg213∗) in ASL in a Chinese Han patient with ASLD. The enzymatic activity of a p.Lys69Arg ASL construct in human embryonic kidney 293T cells was significantly reduced compared to that of the wild-type construct, and no significant activity was observed for the p.Arg213∗ construct. Compound heterozygous p.Lys69Arg and p.Arg213∗ mutations that resulted in reduced ASL enzyme activity were found in a patient with ASLD. This finding expands the clinical spectrum of ASL pathogenic variants.

Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry

2001 ◽  
Vol 24 (3) ◽  
pp. 370-378 ◽  
Author(s):  
S. Stadler ◽  
K. Gempel ◽  
I. Bieger ◽  
B. F. Pontz ◽  
K.-D. Gerbitz ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Tandem Mass ◽  
Argininosuccinate Lyase ◽  
Lyase Deficiency

Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria

2010 ◽  
Vol 100 (1) ◽  
pp. 24-28 ◽  
Author(s):  
S. Mercimek-Mahmutoglu ◽  
D. Moeslinger ◽  
J. Häberle ◽  
K. Engel ◽  
M. Herle ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Argininosuccinate Lyase ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Lyase Deficiency
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