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

Argininosuccinic aciduria (ASA), which is considered to be the second most common urea cycle disorder (UCD), is caused by an argininosuccinate lyase deficiency and is biochemically characterized by elevation of argininosuccinic acid and arginine deficiency. In addition to hyperammonemia, other chara...

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Bibliographic Details
Published in:Journal of human genetics 2018-07, Vol.63 (8), p.911-917
Main Authors: Kim, Dahye, Ko, Jung Min, Kim, Yoon-Myung, Seo, Go Hun, Kim, Gu-Hwan, Lee, Beom Hee, Yoo, Han-Wook
Format: Article
Language:English
Subjects:
Amino acids
Arginine
Argininosuccinate lyase
Argininosuccinic aciduria
Cognition
Deoxyribonucleic acid
DNA
Drug dosages
Fibrosis
Genetics
Geographical variations
Hyperammonemia
Hypertension
Mass spectrometry
Medical screening
Metabolic disorders
Minority & ethnic groups
Mutation
Pediatrics
Phenotypes
Scientific imaging
Urea
Urine
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Summary:Argininosuccinic aciduria (ASA), which is considered to be the second most common urea cycle disorder (UCD), is caused by an argininosuccinate lyase deficiency and is biochemically characterized by elevation of argininosuccinic acid and arginine deficiency. In addition to hyperammonemia, other characteristic features of ASA include hepatic fibrosis, hypertension, neurocognitive deficiencies, and trichorrhexis nodosa. Herein, we retrospectively reviewed the clinical findings, biochemical profiles, and genotypic characteristics of five Korean patients with ASA, who showed typical phenotypes and biochemical findings of the disease. Molecular analysis of these patients revealed six novel ASL mutations. Next, we investigated the prevalence of all types of UCDs in Korea. Of note, over a two decade periods, ASA was only detected in 6.3% of patients with a UCD, which made it the fourth most common UCD in Korea. In comparison with Caucasians, in whom ASA is the second most common UCD, ASA is comparatively rare in East Asian populations, including Japanese and Koreans. These findings suggest the possibility of geographic variation in UCDs among ethnic groups.
ISSN:1434-5161
1435-232X
DOI:10.1038/s10038-018-0467-2