Early Dietary Treated Patients With Phenylketonuria Can Achieve Normal Growth and Mental Development.
试验速览
- 阶段
- 不适用
- 入组人数
- 50
- 主要终点
- Normal growth in early dietary treated patients with Phenylketonuria to assessed by body mass index in kg/m^2
研究概览
简要总结
The study aim is to follow up body growth(body weight by kg, length by cm, head circumference, abdominal circumference, and body mass index ) and mental development of infants on phenylalanine restricted diet in comparison with normal matchable infants.
详细描述
Phenylketonuria is rare genetic disease caused by mutation in gene of phenylalanine (Phe) hydroxylase that converts Phenylalanine into tyrosine. The absence of this enzyme leads to elevation and accumulation of Phenylalanine and, increased phenylketones in urine (hence PKU), and also leads to decrease myelin formation, dopamine, norepinephrine, and serotonin production.
Phenylketonuria worldwide affects about 1 in 12,000 babies.
In Egypt the incidence rate reported 1 : 3000 (0.03%), The actual prevalence of PKU in this study were 1/3000. This is higher than that reported by Temtamy25, who found in a pilot study on 15,000 newborns in 3 governorates in Egypt that the incidence of PKU was 1/ 7500 . The latest consensus in Egypt showed that at least one million babies are born every year.
Phenylalanine hydroxylase deficiency (PAH deficiency) causes a spectrum of disorders, including classic phenylketonuria (PKU).
A rarer form of hyperphenylalaninemia is tetrahydrobiopterin deficiency, which occurs when the PAH enzyme is normal, and a defect is found in the biosynthesis or recycling of the cofactor tetrahydrobiopterin (BH4).
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 1 Month 至 3 Years（Child）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Infants with hyperphenylalaninemia on special formula and diet
- •Infants of both sexes
- •Age since birth till three years
- •Type of feeding : diet restriction of phenylalanine
- •Controls: normal healthy children match with cases in the same social class, age and sex
排除标准
- •Age greater than three years
- •Patients diagnosed with PKU and not regular in feeding for special diet and formula.
- •PKU patients not diagnosed since birth
结局指标
主要结局
Normal growth in early dietary treated patients with Phenylketonuria to assessed by body mass index in kg/m^2
时间窗: one year
Normal growth in early dietary treated patients with Phenylketonuria to assessed by body mass index in kg/m\^2
Normal growth in Early dietary treated patients with Phenylketonuria to assessed by head circumference in centimeters
时间窗: one year
Normal growth in Early dietary treated patients with Phenylketonuria to assessed by head circumference in centimeters
Comparison between early dietary treated patients with Phenylketonuria with normal matchable infants regarding normal growth and mental development
时间窗: one year
Comparison between early dietary treated patients with Phenylketonuria with normal matchable infants regarding normal growth and mental development
Normal growth in Early dietary treated patients with Phenylketonuria to assessed by abdominal circumference in centimeters
时间窗: one year
Normal growth in Early dietary treated patients with Phenylketonuria to assessed by abdominal circumference in centimeters
Mental development in early dietary treated patients with Phenylketonuria to assessed by using Emerging Pattern Of Behavior of infants
时间窗: one year
Mental development in early dietary treated patients with Phenylketonuria to assessed by using Emerging Pattern Of Behavior of infants
次要结局
未报告次要终点
研究者
Monica Ibrahim
Principal investigator
Assiut University