Results 11 to 20 of about 23,946 (202)
Mapping the Severity of Phenylalanine Hydroxylase Deficiency. [PDF]
J Inherit Metab DisABSTRACT Since the 1960s, phenylalanine hydroxylase (PAH) deficiency can be detected via newborn screening, allowing early start of treatment to prevent severe intellectual disability. Precise determination of PAH deficiency severity continues to be hampered by several factors.
Haitjema S +5 more
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Mouse phenylalanine hydroxylase. Homology and divergence from human phenylalanine hydroxylase [PDF]
Biochemical Journal, 1990 The laboratory mouse represents an important model for the study of phenylalanine metabolism and the pathochemistry of phenylketonuria, yet mouse phenylalanine hydroxylase (PAH) has not been extensively studied. We report the cloning and sequencing of a mouse PAH cDNA, the expression of enzymic activity from the mouse PAH cDNA clone and the ...
F D, Ledley +3 more
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Effect of experimental phenylketonuria on some organs of pregnant mothers of albino rats and their young’s during perinatal life. [PDF]
Journal of Bioscience and Applied Research, 2016 Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.It results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of ...
Hassan. I. Elsayyad +3 more
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Molecular Therapy: Methods & Clinical Development, 2020 Phenylketonuria is an inborn error of metabolism caused by loss of function of the liver-expressed enzyme phenylalanine hydroxylase and is characterized by elevated systemic phenylalanine levels that are neurotoxic.
Seemin S. Ahmed +14 more
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PAH mutation spectrum and correlation with PKU manifestation in north Jiangsu province population
Kaohsiung Journal of Medical Sciences, 2018 Phenylketonuria (PKU) is a common autosomal recessive disorder of phenylalanine metabolism and mainly results a deficiency of phenylalanine hydroxylase gene (PAH). The incidence of various PAH mutations have race and ethnicity differences.
Zhen-Wen Wang +2 more
doaj +1 more source
Phenylketonuria (PKU): A problem solved?
Molecular Genetics and Metabolism Reports, 2016 Phenylketonuria (PKU) is a rare metabolic disorder characterized by impaired conversion of phenylalanine (Phe) to tyrosine. If left untreated, the resultant accumulation of excess blood Phe can cause physiological, neurological, and intellectual ...
Christine S. Brown, Uta Lichter-Konecki
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BmPAH catalyzes the initial melanin biosynthetic step in Bombyx mori. [PDF]
PLoS ONE, 2013 Pigmentation during insect development is a primal adaptive requirement. In the silkworm, melanin is the primary component of larval pigments. The rate limiting substrate in melanin synthesis is tyrosine, which is converted from phenylalanine by the rate-
Ping Chen +6 more
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Dynamic regulation of phenylalanine hydroxylase
Pteridines, 2014 Phenylalanine hydroxylase (PAH) is the key enzyme in phenylalanine metabolism, catalyzing its oxidative breakdown to tyrosine. Its function in the committed step of amino acid metabolism requires strict regulation. Thus, several regulatory mechanisms are
Fuchs Julian E. +2 more
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Dynamic regulation of phenylalanine hydroxylase by simulated redox manipulation.
PLoS ONE, 2012 Recent clinical studies revealed increased phenylalanine levels and phenylalanine to tyrosine ratios in patients suffering from infection, inflammation and general immune activity.
Julian E Fuchs +6 more
doaj +1 more source
Incidence of Phenylketonuria in Southern Iran [PDF]
Iranian Journal of Medical Sciences, 2010 Background: Phenylketonuria is a hereditary, autosomal recessivedisorder caused by deficiency of phenylalanine hydroxylaseor its cofactor tetrahydrobiopterin.
Asadollah Habib +3 more
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