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PKU Food

Phenylketonuria (PKU) is a rare genetic condition that affects babies for life

The body is unable to break down phenylalanine, which builds up in the blood and brain. High levels of phenylalanine damage brain cells.

PKU is treated with a special low-protein diet to reduce levels of phenylalanine in the body and prevent brain damage.

PKU doesn't usually cause any symptoms if treatment is started early. If PKU isn't treated, damage to the brain and nervous system can lead to:

  • learning disabilities
  • behavioural difficulties

苯丙酮尿

苯丙酮尿症(PKU)是一种常见的氨基酸代谢病,是由于苯丙氨酸(PA)代谢途径中的酶缺陷,使得苯丙氨酸不能转变成为酪氨酸,导致苯丙氨酸及其酮酸蓄积,并从尿中大量排出。本病在遗传性氨基酸代谢缺陷疾病中比较常见,其遗传方式为常染色体隐性遗传。临床表现不均一,主要临床特征为智力低下、精神神经症状、湿疹、皮肤抓痕征及色素脱失和鼠气味等、脑电图异常。如果能得到早期诊断和早期治疗,则前述临床表现可不发生,智力正常,脑电图异常也可得到恢复。
 
 
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