Classical Phenylketonuria

2020 ◽  
Author(s):  
Keyword(s):  
Classical Phenylketonuria

Effects of ʟ-Phenylalanine on Acetylcholinesterase and Na+,K+-ATPase Activities in Suckling Rat Frontal Cortex, Hippocampus and Hypothalamus

2002 ◽  
Vol 57 (1-2) ◽  
pp. 182-188 ◽  
Author(s):  
Artemis Doulgeraki ◽  
Zetta Papadopoulou-Daifoti ◽  
Stylianos Tsakiris
Keyword(s):  
Frontal Cortex ◽  
Behavioral Problems ◽  
Metabolic Disorders ◽  
Ach Release ◽  
Electrical Instability ◽  
High Concentrations ◽  
Atpase Inhibition ◽  
Classical Phenylketonuria ◽  
Rat Frontal Cortex ◽  
Stimulation Of

The effect of different ʟ-phenylalanine (Phe) concentrations (0.12D12.1 mᴍ) on acetylcholinesterase (AChE), (Na+,K+)-ATPase and Mg2+-ATPase activities was evaluated in homogenates of suckling rat frontal cortex, hippocampus and hypothalamus. Phe, at high concentrations, reduced AChE activity in frontal cortex and hippocampus by 18%-20%. On the contrary, the enzyme activity was unaltered in the hypothalamus. Na+,K+-ATPase was stimulated by high levels of the amino acid, both in the frontal cortex and the hypothalamus by 60%, whereas it was inhibited in the hippocampus by 40%. Mg2+-ATPase was not influenced by Phe. It is suggested that: a) In the frontal cortex, the improper acetylcholine (ACh) release, due to AChE inhibition by Phe, combined with the stimulation of Na+,K+-ATPase, possibly explain tremor and the hyperkinetic behaviour in patients with classical phenylketonuria (PKU). b) In the hippocampus, inhibition of AChE by Phe could lead to problems in memory, while Na+,K+-ATPase inhibition by Phe may induce metabolic disorders and electrical instability of the synaptosomal membrane. c) In the hypothalamus, the behavioral problems in PKU “off diet” may be related to noradrenaline (NA) levels, which are probably correlated with the modulated Na+,K+-ATPase by Phe.

scholarly journals Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria

2002 ◽  
Vol 25 (6) ◽  
pp. 431-436 ◽  
Author(s):  
J. Weglage ◽  
D. Wiedermann ◽  
J. Denecke ◽  
R. Feldmann ◽  
H.-G. Koch ◽  
...  
Keyword(s):  
Blood Brain Barrier ◽  
Brain Barrier ◽  
Blood Brain ◽  
Classical Phenylketonuria ◽  
Phenylalanine Transport

scholarly journals Treatment of classical phenylketonuria.

1968 ◽  
Vol 43 (227) ◽  
pp. 1-7 ◽  
Author(s):  
M. S. MCBean ◽  
J. B. Stephenson
Keyword(s):  
Classical Phenylketonuria

scholarly journals Different Phenotypes for Phenylalanine Hydroxylase Deficiency

1977 ◽  
Vol 14 (1-6) ◽  
pp. 124-134 ◽  
Author(s):  
F. Güttler ◽  
G. Hansen
Keyword(s):  
Body Weight ◽  
Phenylalanine Hydroxylase ◽  
Daily Intake ◽  
Hydroxylase Deficiency ◽  
Phenylalanine Concentration ◽  
Maximum Serum ◽  
Phenylalanine Loading ◽  
Tyrosine Concentration ◽  
Classical Phenylketonuria ◽  
Serum Phenylalanine

Abnormalities related to the hydroxylation of phenylalanine to tyrosine are classified into three phenotypes based on the amount of dietary phenylalanine tolerated to keep serum phenylalanine within therapeutic levels, i.e., 180–425 μmol/l (3–7 mg/100 ml): (1) Classical phenylketonuria (PKU) tolerating approximately 17% of a normal intake of phenylalanine or approximately 0.12 mmol per kg body weight; (2) mild PKU with a tolerance some 50% higher; and (3) persistent hyperphenylalaninaemia (HPA) with serum phenylalanine values within therapeutic levels on a daily intake of geqslant 0.7 mmol phenylalanine per kg body weight. Oral phenylalanine loading was performed on 100 heterozygotes for these abnormalities and 33 normal homozygotes. The slope of the rise in serum tyrosine multiplied by the maximum serum tyrosine concentration over the maximum phenylalanine concentration was the most powerful discriminant (D/_s, 3.54; overlapping 2.4%). Three heterozygous phenotypes were distinguished by this discriminant, and a significant correlation was observed between the phenotypic combination of the parents and the phenotype of their affected child. In particular, parents of children with classical PKU were clearly distinguished from heterozygotes for the other two abnormalities.

Phenylalaninemia or Classical Phenylketonuria

1970 ◽  
Vol 2 (01) ◽  
pp. 121-122 ◽  
Author(s):  
John Menkes ◽  
Neil Holtzman
Keyword(s):  
Classical Phenylketonuria

Demethylation of the promoter region of GPX3 in a newborn with classical phenylketonuria

2017 ◽  
Vol 50 (3) ◽  
pp. 159-161 ◽  
Author(s):  
Chike Bellarmine Item ◽  
Sharmane Escueta ◽  
Andrea Schanzer ◽  
Somayeh Farhadi ◽  
Thomas Metz ◽  
...  
Keyword(s):  
Promoter Region ◽  
Classical Phenylketonuria

Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria

2013 ◽  
Vol 108 (4) ◽  
pp. 255-258 ◽  
Author(s):  
Carol Hartnett ◽  
Ramona Salvarinova-Zivkovic ◽  
Eva Yap-Todos ◽  
Barbara Cheng ◽  
Alette Giezen ◽  
...  
Keyword(s):  
Long Term Outcomes ◽  
Blood Phenylalanine ◽  
Classical Phenylketonuria

Long-term follow up of patients with classical phenylketonuria after diet relaxation at 5 years of age

1996 ◽  
Vol 155 (S1) ◽  
pp. S39-S44 ◽  
Author(s):  
F. Rey ◽  
V. Abadie ◽  
F. Plainguet ◽  
J. Rey
Keyword(s):  
Long Term Follow Up ◽  
Classical Phenylketonuria
Sign in / Sign up

Export Citation Format

Share Document