Successful Management of Ornithine Transcarbamylase Deficiency Presenting with Reversible Metabolic Stroke in a Child

References (12)

1. Nakamura K, Kido J, Matsumoto S and et al. Clinical manifestations and growth of patients with urea cycle disorders in Japan. J Hum Genet 2016;61:613-6.
2. Choi JH, Lee BH, Kim JH and et al. Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency. J Hum Genet 2015;60:501-7.
3. Kalidas K, Behrouz R. Inherited metabolic disorders and cerebral infarction. Expert Rev Neurother 2008;8:1731-41.
4. Braissant O, Mc Lin VA, Cudalbu C. Ammonia toxicity to the brain. J Inherit Metab Dis 2013;36:595-612. Gropman A. Brain imaging in urea cycle disorders. Mol Genet Metab 2010;1:20-30.
5. Zhang Z, Xiao M, Ye Zandetal. Noncardiogenic stroke patients with metabolic syndrome have more borderzone infarction and intracranial artery stenosis. J Stroke Cerebrovasc Dis 2015;24:629-34.
6. Tummolo A, Favia V, Bellantuono R and et al. Successful early management of a female patient with a metabolic stroke due to ornithine transcarbamylase deficiency. Pediatr Emerg Care 2013;29:656-8.
7. Grompe M, Caskey CT, Fenwick RG. Improved molecular diagnostics for ornithine transcarbamylase deficiency.Am J Hum Genet 1991;48:212-22.
8. Matsuda I, Tanase S. The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency.Am J Med Genet 1997;71:378-83.
9. Hata A, Setoyama C, Shimada K and et al. Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene. Am J Hum Genet 1989;45:123-7.
10. Caldovic L, Abdikarim I, Narain S and et al. Genotype– Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update. J Genet Genomics 2015;42:181-94.
11. McCullough BA, Yudkoff M, Batshaw ML and et al.Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype. Am J Med Genet 2000;93:313-9.
12. Oscarson M, Vassiliou D, Nordenström A. Hereditary metabolic diseases with onset in adulthood. Early and correct treatment of acute symptoms can be life-saving. Lakartidningen 2016;1:113. Bergmann KR, McCabe J, Smith TR and et al. Late onset ornithine transcarbamylase deficiency: treatment and outcome of hyperammonemic crisis. Pediatrics 2014;133:1072-6.