■胍基乙酸甲基转移酶缺乏症(GAMT)是一种常染色体隐性遗传先天性代谢错误。一种由GAMT基因中定位到19p13.3的致病性变异引起的疾病。患病率估计高达1:2,640,000例;由于血缘关系率高,沙特阿拉伯等国家的患病率可能更高。患者可以获得的临床表现很广泛,并在患者的儿童早期开始显现。
■于2022年1月对病例报告进行了全面审查。对检索到的文献进行人口统计学数据筛选。包括所有年龄的患者。定性变量被描述为数量和百分比(%),定量数据由平均值和标准偏差描述。在双变量数据中,非参数变量采用卡方检验(χ2)和t检验。
■性别分布为男性的53%和女性的47%。报告年龄为8至31个月。在发病年龄,50%的病例是婴儿,28%是幼儿,15%是儿童,结论79%的报告病例在5岁之前出现症状。68%的病例在其一生中出现了全身性癫痫发作。84%的病例表示出发育迟缓的形式。43%的病例患有智力障碍和智力低下,影响了他们的学习过程;大多数病例需要特别护理。23%的受影响病例是近亲结婚,7%的亲戚受到影响。
■我们描述了四个新的病例报告,第一个在沙特阿拉伯被报道。在大多数情况下,癫痫发作是一个主要发现。广泛观察到发育延迟。智力延迟和语言障碍是主要标志。建议进一步了解和早期诊断。使用全外显子组测序对神经遗传疾病进行婚前检测可能是未来的方向,尤其是在有高血缘关系的人群中。
UNASSIGNED: Guanidinoacetate methyltransferase deficiency (GAMT) is an autosomal recessive inborn error of metabolism. A condition that results from a pathogenic variant in the GAMT gene that maps to 19p13.3. The prevalence can be estimated to be up to 1:2,640,000 cases; countries such as Saudi Arabia could have a higher prevalence due to high consanguinity rates. The clinical manifestations that a patient could obtain are broad and start to manifest in the patients\' early childhood years.
UNASSIGNED: A thorough review of
case reports in January 2022 was conducted. The retrieved literature was screened for demographic data. Patients of all ages were included. Qualitative variables were described as number and percentage (%), and quantitative data were described by the mean and standard deviation. In bivariate data, Chi-square test (χ2) was used and t-test for nonparametric variables.
UNASSIGNED: Gender distribution was 53% of males and 47% females. Reported age ranged from 8 to 31 months. At the age of onset, 50% of the cases were infants, 28% were toddlers, and 15% were children, concluding that 79% of the reported cases developed symptoms before 5 years old. 68% of the cases developed generalized seizures throughout their life. 84% of the cases expressed a form of developmental delay. 43% of the cases had intellectual disabilities and mental retardation that affected their learning process; most cases required special care. 23% of the affected cases were of consanguineous marriages, and 7% had affected relatives.
UNASSIGNED: We described four novel
case reports, the first to be reported in Saudi Arabia. Seizure was a leading finding in the majority of the cases. Developmental delay was broadly observed. Intellectual delay and language impairments are primary hallmarks. Further understanding and early diagnosis are recommended. Premarital testing of neurogenetic diseases using whole-exome sequencing is probably a future direction, especially in populations with high consanguinity rates.