Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in intolerance to the dietary intake of the essential amino acid phenylalanine. It occurs in approximately 1:15,000 individuals. Deficiency of this enzyme produces a spectrum of disorders including classic phenylketonuria, ...
Phenylalanine hydroxylase deficiency (PAHD), one of the genetic disorders resulting in hyperphenylalaninemia, has a complex phenotype with many variants and genotypes among different populations. Here, we describe the mutational and phenotypic spectrum of PAHD in a cohort of 420 patients from neonatal...
ACMG Practice Guidelines © American College of Medical Genetics and Genomics Phenylalanine hydroxylase deficiency: diagnosis and management guideline Jerry Vockley, MD, PhD1,2, Hans C. Andersson, MD3, Kevin M. Antshel, PhD4, Nancy E. Braverman, MD5, Barbara K. Burton, MD6, Dianne M. ...
网络苯丙氨酸羟化酶缺乏症 网络释义 1. 苯丙氨酸羟化酶缺乏症 ...尿症(phenylketonuria,PKU)或称苯丙氨酸羟化酶缺乏症(phenylalanine hydroxylase deficiency)是由于肝脏苯丙氨酸羟 … www.wiki8.com|基于7个网页
Smith I. Treatment of phenylalanine hydroxylase deficiency. Acta Pae- diatr. 1994;407:60 - 65. SupplementSmith I. Treatment of phenylalanine hydroxylase deficiency. Acta Paediatr Suppl 1994; 407: 60–65Smith, I. ( 1994 ). Treatment of phenylalanine hydroxylase deficiency . Acta Paediatrica ( ...
3.1.4Phenylalanine hydroxylase deficiency and phenylketonuria Phenylalanine hydroxylase(PAH, EC 1.14.16.1) is an enzyme that catalyzes the hydroxylation ofphenylalanine(Phe) to generate tyrosine. Deficiency in PAH results in the accumulation of Phe, which is eventually converted into neurotoxicphenylpyruvat...
Modeling correlates of low bone mineral density in patients with phenylalanine hydroxylase deficiency. Coakley KE,Douglas TD,Goodman M,et al. Journal of Inherited Metabolic Disease . 2016K. E. Coakley, T. D. Douglas, M. Goodman, U. Ramakrishnan, S. F. Dobrowolski, and R. H. Singh, "...
Phenylalanine Hydroxylase Deficiency. Figure 1 The phenylalanine hydroxylating system. Impaired activity of PAH results in systemic accumulation of phenylalanine and formation of secondary metabolites, e.g., phenylpyruvate, phenyllactate, phenylacetylglutamine, and phenylacetate [ 1 ]. The most important ...
Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency. J Inherit Metab Dis 2006;29:725-31.Zurfluh MR, Fiori L, Fiege B, Ozen I, Demirkol M, Gartner KH, et al. Pharmacokinetics of orally administered tetrahydrobiopterin in patients with ...
Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southe... Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria ...