phenylalanine/seizures

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Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)

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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

Early Dietary Treated Patients With Phenylketonuria Can Achieve Normal Growth and Mental Development.

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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

Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy

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Hyperphenylalaninemia (HPA) is a rare metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH) (NIH, October 16-18, 2000). Elevated plasma levels of phenylalanine (phe) cause mental retardation, microcephaly, delayed speech, seizures, eczema, and behavior

Bone Mineral Density in Adults With Hyperphenylalaninemia

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Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients

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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

Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency

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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:

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