High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations

Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population

“…The c.1168G > A mutation is the most common mutation in several ethnic groups, including Germans, Spaniards, and Turks, but rare in Asians (Gao et al, 2003; Engel et al, 2009; Diez-Fernandez et al, 2017). Whereas, the c.421-2A > G is the most frequent mutation in East Asians (Kobayashi et al, 1995; Lee et al, 2013; Woo et al, 2013). However, in this study, only one CTLN 1 patient and two mutations of the ASS1 gene were identified in Suzhou citurillinemia patients, which could be caused by ethnic specificity.…”

Neuropsychological attributes of urea cycle disorders: A systematic review of the literature

“…ǂData are only available after the year 2000 for Citrin deficiency. Abbreviations: ARGD, arginase deficiency; ASLD, argininosuccinate lyase deficiency; ASSD, argininosuccinate synthetase deficiency; CPS1D, carbamoyl phosphate synthetase 1 deficiency; HHH, hyperornithinemia-hyperammonemia-homocitrullinuria; NAGSD, N-acetylglutamate synthase deficiency; OTCD, ornithine transcarbamylase deficiency HHH syndrome, 109 citrullinemia type I, 66 and probably in all the other UCDs, as well. Earlier treatment initiation (diet in less severe cases and ammonia scavengers or liver transplantation in severe cases) led to better outcomes in most studies, 7,8,45,47,61,84,110 whereas lack of treatment or noncompliance with treatment resulted in poorer cognitive outcomes.…”

“…The followup study of enrollees aged ≥3 years identified 35% of 64 patients with intellectual disabilities. 65 Lee et al 66 compared neuropsychological outcomes in 14 patients with ASSD in terms of age at symptom onset. Among patients with neonatal-onset ASSD (n = 12), 3 died, four had severe intellectual disabilities, four had moderate intellectual disabilities, and one developed normally.…”

Pregnancy-related Type Citrullinemia Type 1: an Analysis of 14 Cases and Review of the Literature

“…Citrullinemia type I affects the urea cycle and is manifested by hyperammonemia and elevated citrulline concentration in blood and urinary, usually onset within a few days of birth with sleepiness, feeding di culties, vomiting and shortness of breath (23,24). Without timely interventions, an increase in intracranial pressure (ICP) secondary to hyperammonemia can lead to altered muscle tone, spasticity, epilepsy, stroke, loss of consciousness and result in newborn deaths (5,25).…”

“…Molecular genetic testing approaches can include single-gene testing and use of a multigene panel(22).Citrullinemia type I affects the urea cycle and is manifested by hyperammonemia and elevated citrulline concentration in blood and urinary, usually onset within a few days of birth with sleepiness, feeding di culties, vomiting and shortness of breath (23,24). Without timely interventions, an increase in intracranial pressure (ICP) secondary to hyperammonemia can lead to altered muscle tone, spasticity, epilepsy, stroke, loss of consciousness and result in newborn deaths (5,25).Neonatal probands often present with very early onset within the rst week of life while on a full protein diet(26). There are typical initial symptoms, such as failure to feed, severe de ciency or total absence of activity, the related signs of lethargy, anorexia, hypothermia, seizures, neurologic posturing, and coma(26, 27).The ASS1 mutations carriers may also have a milder late-onset or being asymptomatic for a lifetime.…”