Phenylketonuria (PKU) is an autosomal recessive disorder caused by more than 500 pathogenic variants in the phenylalanine hydroxylase (PAH) gene. Due to these mutations, affected individuals have reduced activity or complete deficiency of the enzyme phenylalanine hydroxylase, which metabolizes the
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
Phenylketonuria (PKU) results from deficient phenylalanine hydroxylase (PAH) activity and leads to toxic phenylalanine (Phe) accumulation in patients with PKU causing mental retardation, microcephaly, delayed speech, seizures, psychiatric symptoms and behavioral abnormalities. Although for most PKU
Within 4 weeks of completing screening assessments to determine eligibility, subjects will be enrolled in the study. The study will be conducted in two parts.
Part 1: After screening, all subjects will be followed for two weeks without modification of their baseline medical or dietary care.
Part 2:
The mortality in severe malaria remains between 12-30% despite antimalarial therapy. The overwhelming majority of deaths from malaria occur in children in impoverished countries of the world with cerebral malaria (CM) and metabolic acidosis as the most important negative prognostic indicators. CM is
اكتب أحد الأعراض أو المرض واقرأ عن الأعشاب التي قد تساعد ، واكتب عشبًا واطلع على الأمراض والأعراض التي تستخدم ضدها. * تستند جميع المعلومات إلى البحوث العلمية المنشورة