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HERO ID
2997720
Reference Type
Journal Article
Title
Five Novel Mutations in ARG1 Gene in Chinese Patients of Argininemia
Author(s)
Wu, TFei; Liu, YuP; Li, XiY; Wang, Q; Ding, Y; Ma, YanYan; Song, JinQ; Yang, YanL
Year
2013
Is Peer Reviewed?
1
Journal
Pediatric Neurology
ISSN:
0887-8994
Volume
49
Issue
2
Page Numbers
119-123
Language
English
PMID
23859858
DOI
10.1016/j.pediatrneurol.2013.04.026
Web of Science Id
WOS:000322499900008
Abstract
BACKGROUND:
Argininemia is an autosomal recessive genetic disorder caused by hepatocyte arginase deficiency. It could be detected by blood amino acids analysis (high arginine) and confirmed by molecular diagnosis. The clinical manifestations in patients are similar to cerebral palsy so the diagnosis is usually much delayed. Reports of argininemia from mainland China are few, and genetic analyses have not been reported.
PATIENTS AND METHODS:
Five Chinese patients with argininemia were investigated. They had progressive spastic tetraplegia, poor physical growth from 1 month to 4 years. When argininemia was found at the ages of 4 to 12 years, four of patients had mental retardation, and three had seizures.
RESULTS:
Elevated blood arginine and significantly decreased erythrocyte arginase activity in five patients confirmed the diagnosis of arginase deficiency. Liver dysfunction was found in four patients, two of whom had mildly elevated blood ammonia levels. Cranial magnetic resonance imaging showed progressive cerebral atrophy in three patients. Six mutations in the ARG1 gene were identified, of which only one (c.703 G>A, p.G235R) in exon 7 has been reported before; c.34 G>T (p.G12X) in exon 1, c.67delG (p.G23fsX31) in exon 2, c.539G>C (p.R180 T) in exon 5, c.374C>T (p.A125 V) in exon 4, and c.646-649del CTCA (p.T215fsX219) in exon 6 were novel mutations.
CONCLUSIONS:
Argininemia is one of the few treatable causes of pediatric spastic paraparesis. Early metabolic investigation is very important to reach a diagnosis and better outcome. Five Chinese patients with late-diagnosed argininemia were reported. The mutation spectrum of ARG1 gene should be different from other populations.
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Ammonia
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