精氨琥珀酸裂解酶
医学
新生儿筛查
精氨琥珀酸合成酶
裂解酶
遗传学
尿素循环
儿科
酶
生物化学
精氨酸
氨基酸
生物
精氨酸酶
作者
Thurston Yan Jia Heng,Jin Rong Ow,Ai Ling Koh,Joel Kian Boon Lim,Christine Bee Keow Ong,Jasmine Chew Yin Goh,Jiin Ying Lim,Fang Kuan Chiou,Saumya Shekhar Jamuar
出处
期刊:Clinical Dysmorphology
[Ovid Technologies (Wolters Kluwer)]
日期:2023-10-13
卷期号:33 (1): 43-49
标识
DOI:10.1097/mcd.0000000000000475
摘要
Argininosuccinate lyase (ASL) deficiency is an autosomal recessive disorder of the urea cycle with a diverse spectrum of clinical presentation that is detectable in newborn screening. We report an 8-year-old girl with ASL deficiency who was detected through newborn screening and was confirmed using biochemical and functional assay. She is compound heterozygous for a likely pathogenic variant NM_000048.4(ASL):c.283C>T (p.Arg95Cys) and a likely benign variant NM_000048.4(ASL): c.1319T>C (p.Leu440Pro). Functional characterisation of the likely benign genetic variant in ASL was performed. Genomic sequencing was performed on the index patient presenting with non-specific symptoms of poor feeding and lethargy and shown to have increased serum and urine argininosuccinic acid. Functional assay using HEK293T cell model was performed. ASL enzymatic activity was reduced for Leu440Pro. This study highlights the role of functional testing of a variant that may appear benign in a patient with a phenotype consistent with ASL deficiency, and reclassifies NM_000048.4(ASL): c.1319T>C (p.Leu440Pro) variant as likely pathogenic.
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