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KMID : 0918520210210010015
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Journal of the Korean Society of Inherited Metabolic Disease
2021 Volume.21 No. 1 p.15 ~ p.21
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Long-term Clinical Consequences in Patients with Urea Cycle Disorders in Korea: A Single-center Experience
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Lee Jun
Kim Min-Ji
Yoo Suk-Dong
Yoon Ju-Young
Kim Yoo-Mi
Cheon Chong-Kun
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Abstract
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Purpose: Urea cycle disorder (UCD) is an inherited inborn error of metabolism, acting on each step of urea cycle that cause various phenotypes. The purpose of the study was to investigate the long-term clinical consequences in different groups of UCD to characterize it.
Methods: Twenty-two patients with UCD genetically confirmed were enrolled at Pusan National University Children’s hospital and reviewed clinical features, biochemical and genetic features retrospectively.
Results: UCD diagnosed in the present study included ornithine transcarbamylase deficiency (OTCD) (n=10, 45.5%), argininosuccinate synthase 1 deficiency (ASSD) (n=6, 27.3%), carbamoyl-phosphate synthetase 1 deficiency (CPS1D) (n=3, 13.6%), hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS) (n=2, 9.1%), and arginase-1 deficiency (ARG1D) (n=1, 4.5%). The age at the diagnosis was 32.7±66.2 months old (range 0.1 to 228.0 months). Eight (36.4%) patients with UCD displayed short stature. Neurologic sequelae were observed in eleven (50%) patients with UCD. Molecular analysis identified 37 different mutation types (14 missense, 6 nonsense, 6 deletion, 6 splicing, 3 delins, 1 insertion, and 1 duplication) including 14 novel variants. Progressive growth impairment and poor neurological outcomes were associated with plasma isoleucine and leucine concentrations, respectively.
Conclusion: Although combinations of treatments such as nutritional restriction of proteins and use of alternative pathways for discarding excessive nitrogen are extensively employed, the prognosis of UCD remains unsatisfactory. Prospective clinical trials are necessary to evaluate whether supplementation with BCAAs might improve growth or neurological outcomes and decrease metabolic crisis episodes in patients with UCD.
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KEYWORD
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Urea cycle disorder, Clinical consequences, Neurologic outcomes, Branched-chain amino acid
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