Studies on phenylketonuria. I. Restricted phenylalanine intake in phenylketonuria.
نویسندگان
چکیده
منابع مشابه
Phenylketonuria from Genetics to Clinics: An Iranian Prospect
Phenylketonuria (PKU) is the most common autosomal recessive disorder of amino acid metabolism. Thedisease is caused mainly by mutations in the phenylalanine hydroxylase (PAH) gene, encoding phenylalaninehydroxylase (PAH) enzyme. The PAH enzyme deficiency results in the elevation of phenylalanine inthe blood, which may cause severe irreversible mental retardation in the affect...
متن کاملHepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria.
Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is associated with the risk of malnutrition and severe psychosocial burden. Oral administration of tetrahydrobiopterin can increase residual enzyme activity, but most patients with severe clinical phenotypes are nonresponders. We performed l...
متن کاملMolecular Diagnosis of Plasma Phenylalanine in Neonates with Phenylketonuria Disease Using Biological Sensors Based on Surface-Enhanced Raman Spectroscopy (SERS)
In this study, silver nanoparticles were chemically synthesized and deposited on glass substrates using a reducing agent of sucrose, at 50°C. Different characterizations including atomic force microscopy (AFM), field emission scanning electron microscopy (FESEM), and Raman spectroscopy were obtained to study silvery substrates. Then, the silvery substrates were used as the SERS substrates to de...
متن کامل[Financial justification of investments into special diet for patients with phenylketonuria].
INTRODUCTION Phenylketonuria is a genetic disorder of metabolism of amino acid phenylalanine, which results in the absence of phenylalanine hydroxylase, an enzyme that catalyzes the conversion of phenylalanine into tyrosine. It is an autosomal recessive disorder. Screening for phenylketonuria in Voivodina started in 2003. Screening data are shown in this paper. Treatment of phenylketonuria is b...
متن کاملPhenylketonuria Treatment’s Impact on Physical Growth: A Spanish Retrospective Longitudinal Study
Background: Phenylketonuria treatment based on phenylalanine-restricted diet has proven to be effective in preventing the development of long-term neurological damage. However, such diets have occasionally been reported to hinder normal development. Furthermore, to improve outcomes in these patients therapy based on administration of the cofactor BH4 has emerged. However, little is known about ...
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ورودعنوان ژورنال:
- The Journal of clinical investigation
دوره 34 4 شماره
صفحات -
تاریخ انتشار 1955