Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses.

PubWeight™: 1.38‹?› | Rank: Top 10%

🔗 View Article (PMID 20123477)

Published in Mol Genet Metab on January 01, 2010

Authors

M J de Groot1, M Hoeksma, N Blau, D J Reijngoud, F J van Spronsen

Author Affiliations

1: Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands.

Articles citing this

Cardiac teratogenicity in mouse maternal phenylketonuria: defining phenotype parameters and genetic background influences. Mol Genet Metab (2012) 1.41

The neuropsychiatry of inborn errors of metabolism. J Inherit Metab Dis (2013) 1.07

White matter integrity and executive abilities in individuals with phenylketonuria. Mol Genet Metab (2013) 1.02

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes. Orphanet J Rare Dis (2015) 1.01

Variability in phenylalanine control predicts IQ and executive abilities in children with phenylketonuria. Mol Genet Metab (2014) 0.93

Phenylketonuria: reduced tyrosine brain influx relates to reduced cerebral protein synthesis. Orphanet J Rare Dis (2013) 0.86

Large Neutral Amino Acid Supplementation Exerts Its Effect through Three Synergistic Mechanisms: Proof of Principle in Phenylketonuria Mice. PLoS One (2015) 0.86

Differential effects of low-phenylalanine protein sources on brain neurotransmitters and behavior in C57Bl/6-Pah(enu2) mice. Mol Genet Metab (2014) 0.85

White matter integrity and executive abilities following treatment with tetrahydrobiopterin (BH4) in individuals with phenylketonuria. Mol Genet Metab (2013) 0.84

Altered brain protein expression profiles are associated with molecular neurological dysfunction in the PKU mouse model. J Neurochem (2014) 0.84

Evaluation of Tetrahydrobiopterin Therapy with Large Neutral Amino Acid Supplementation in Phenylketonuria: Effects on Potential Peripheral Biomarkers, Melatonin and Dopamine, for Brain Monoamine Neurotransmitters. PLoS One (2016) 0.84

In vivo catecholaminergic metabolism in the medial prefrontal cortex of ENU2 mice: an investigation of the cortical dopamine deficit in phenylketonuria. J Inherit Metab Dis (2012) 0.81

Phenylalanine hydroxylase misfolding and pharmacological chaperones. Curr Top Med Chem (2012) 0.81

Oxidative stress in phenylketonuria: future directions. J Inherit Metab Dis (2011) 0.81

Behavioral and neurochemical characterization of new mouse model of hyperphenylalaninemia. PLoS One (2013) 0.80

Pharmacologic inhibition of L-tyrosine degradation ameliorates cerebral dopamine deficiency in murine phenylketonuria (PKU). J Inherit Metab Dis (2014) 0.79

Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls. Orphanet J Rare Dis (2016) 0.79

Phenylketonuria: brain phenylalanine concentrations relate inversely to cerebral protein synthesis. J Cereb Blood Flow Metab (2014) 0.79

Commensal bacteria and essential amino acids control food choice behavior and reproduction. PLoS Biol (2017) 0.78

Processing speed and executive abilities in children with phenylketonuria. Neuropsychology (2012) 0.78

Relationship between age and white matter integrity in children with phenylketonuria. Mol Genet Metab Rep (2016) 0.78

Dietary treatment of phenylketonuria: the effect of phenylalanine on reaction time. J Inherit Metab Dis (2011) 0.77

Biochemical, Metabolic, and Behavioral Characteristics of Immature Chronic Hyperphenylalanemic Rats. Neurochem Res (2015) 0.75

High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU). Mol Genet Metab (2015) 0.75

A Review of Epigenetic Markers of Tobacco and Alcohol Consumption. Behav Sci Law (2015) 0.75

A Pilot Study of Fluorodeoxyglucose Positron Emission Tomography Findings in Patients with Phenylketonuria before and during Sapropterin Supplementation. J Clin Neurol (2013) 0.75

Born at 27 weeks of gestation with classical PKU: challenges of dietetic management in a very preterm infant. Pediatr Rep (2011) 0.75

Possible association between common variants of the phenylalanine hydroxylase (PAH) gene and memory performance in healthy adults. Behav Brain Funct (2013) 0.75

A Multiplatform Metabolomics Approach to Characterize Plasma Levels of Phenylalanine and Tyrosine in Phenylketonuria. JIMD Rep (2016) 0.75

Sight-threatening phenylketonuric encephalopathy in a young adult, reversed by diet. JIMD Rep (2013) 0.75

Early-onset behavioral and neurochemical deficits in the genetic mouse model of phenylketonuria. PLoS One (2017) 0.75

The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis (2017) 0.75

Articles by these authors

(truncated to the top 100)

The permeability properties of the lysosomal membrane. Biochim Biophys Acta (1977) 4.63

Tetrahydrobiopterin biosynthesis, regeneration and functions. Biochem J (2000) 3.91

Nitric oxide synthase is not a constituent of the antimicrobial armature of human mononuclear phagocytes. J Infect Dis (1993) 3.75

Chloroquine accumulation in isolated rat liver lysosomes. FEBS Lett (1976) 2.09

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology (2010) 1.88

Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU. J Inherit Metab Dis (2009) 1.52

Large daily fluctuations in plasma tyrosine in treated patients with phenylketonuria. Am J Clin Nutr (1996) 1.47

Chronic treatment with tetrahydrobiopterin reverses endothelial dysfunction and oxidative stress in hypercholesterolaemia. Heart (2007) 1.45

Prevalence of congenital heart disease in patients with phenylketonuria. J Pediatr (1991) 1.44

Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nat Genet (1996) 1.44

Biopterin-dependent hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Neurology (1991) 1.43

The neurochemistry of phenylketonuria. Eur J Pediatr (2000) 1.39

Comparison of C-reactive protein and white blood cell count with differential in neonates at risk for septicaemia. Eur J Pediatr (1995) 1.37

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet (2001) 1.32

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency. J Neurol Neurosurg Psychiatry (2006) 1.27

Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia. Biochem Biophys Res Commun (1988) 1.23

Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits. Neuropediatrics (2007) 1.20

Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence. J Biol Chem (1993) 1.18

Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. Neurology (2005) 1.18

Relationship between medium pH and that of the lysosomal matrix as studied by two independent methods. Biochim Biophys Acta (1976) 1.17

GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia. Eur J Pediatr (1984) 1.14

Impaired prenatal and postnatal growth in Dutch patients with phenylketonuria. The National PKU Steering Committee. Arch Dis Child (1994) 1.14

Pediatric urolithiasis in Armenia: a study of 198 patients observed from 1991 to 1999. Pediatr Nephrol (2001) 1.11

The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria. J Inherit Metab Dis (2006) 1.08

Monoamine oxidase inhibitors in tetrahydrobiopterin deficiency. Eur J Pediatr (1995) 1.08

Sustained attention and inhibition of cognitive interference in treated phenylketonuria: associations with concurrent and lifetime phenylalanine concentrations. Neuropsychologia (2002) 1.07

Transport of glutamate in rat-liver mitochondria. Biochim Biophys Acta (1972) 1.06

Plasma phenylalanine and tyrosine responses to different nutritional conditions (fasting/postprandial) in patients with phenylketonuria: effect of sample timing. Pediatrics (1993) 1.06

Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency. J Biol Chem (1995) 1.06

Urinary oxalate excretion in urolithiasis and nephrocalcinosis. Arch Dis Child (2000) 1.05

Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature. Eur J Pediatr (1997) 1.04

Effect of BH(4) supplementation on phenylalanine tolerance. J Inherit Metab Dis (2008) 1.04

Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts. Clin Chem (2001) 1.03

Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern. Biochim Biophys Acta (2011) 1.03

A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity. Am J Kidney Dis (1997) 1.03

Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: a novel neurometabolic condition responding to folinic acid substitution. Neuropediatrics (2002) 1.01

Human carbonyl and aldose reductases: new catalytic functions in tetrahydrobiopterin biosynthesis. Biochem Biophys Res Commun (1991) 1.01

Reduced folate transport to the CNS in female Rett patients. Neurology (2003) 1.00

Acute inhibition of hepatic glucose-6-phosphatase does not affect gluconeogenesis but directs gluconeogenic flux toward glycogen in fasted rats. A pharmacological study with the chlorogenic acid derivative S4048. J Biol Chem (2001) 1.00

Adherence issues in inherited metabolic disorders treated by low natural protein diets. Ann Nutr Metab (2012) 0.99

Mitochondrial diseases associated with cerebral folate deficiency. Neurology (2008) 0.99

Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome. Neuropediatrics (2007) 0.98

Behaviour and school achievement in patients with early and continuously treated phenylketonuria. J Inherit Metab Dis (2000) 0.98

Mechanism of dissociation of human apolipoprotein A-I from complexes with dimyristoylphosphatidylcholine as studied by guanidine hydrochloride denaturation. Biochemistry (1982) 0.98

Regulation of the L-arginine-dependent and tetrahydrobiopterin-dependent biosynthesis of nitric oxide in murine macrophages. Eur J Biochem (1993) 0.98

Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients. Genomics (1994) 0.96

Acute inhibition of glucose-6-phosphate translocator activity leads to increased de novo lipogenesis and development of hepatic steatosis without affecting VLDL production in rats. Diabetes (2001) 0.96

Regulation of 6-pyruvoyltetrahydropterin synthase activity and messenger RNA abundance in human vascular endothelial cells. Circulation (1998) 0.96

Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency. Ann Neurol (1998) 0.95

Nitric oxide and infection: another view. Clin Infect Dis (1995) 0.94

Epidermal H(2)O(2) accumulation alters tetrahydrobiopterin (6BH4) recycling in vitiligo: identification of a general mechanism in regulation of all 6BH4-dependent processes? J Invest Dermatol (2001) 0.94

Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase. Am J Hum Genet (1994) 0.93

Behavioural factors related to metabolic control in patients with phenylketonuria. J Inherit Metab Dis (2005) 0.93

Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH). Am J Hum Genet (1998) 0.93

The neuropsychological profile of early and continuously treated phenylketonuria: orienting, vigilance, and maintenance versus manipulation-functions of working memory. Neurosci Biobehav Rev (2002) 0.93

Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes. Hum Mutat (1997) 0.93

Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis. Mol Genet Metab (2012) 0.93

7-substituted pterins in humans with suspected pterin-4a-carbinolamine dehydratase deficiency. Mechanism of formation via non-enzymatic transformation from 6-substituted pterins. Eur J Biochem (1992) 0.92

Renal function in tyrosinaemia type I after liver transplantation: a long-term follow-up. J Inherit Metab Dis (2005) 0.92

Mitochondrial complex I encephalomyopathy and cerebral 5-methyltetrahydrofolate deficiency. Neuropediatrics (2007) 0.92

Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II. J Biol Chem (1999) 0.91

Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity. J Biol Chem (1995) 0.91

Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. Hum Mutat (1998) 0.90

Phenylketonuria: plasma phenylalanine responses to different distributions of the daily phenylalanine allowance over the day. Pediatrics (1996) 0.90

Guanosine triphosphate cyclohydrolase I assay in human and rat liver using high-performance liquid chromatography of neopterin phosphates and guanine nucleotides. Anal Biochem (1983) 0.90

Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias. Mol Genet Metab (2000) 0.90

A simple procedure for the isolation of lysosomes from normal rat liver. FEBS Lett (1976) 0.90

Mechanism of dissociation of human apolipoproteins A-I, A-11, and C from complexes with dimyristoylphosphatidylcholine as studied by thermal denaturation. Biochemistry (1984) 0.90

Animal models of brain dysfunction in phenylketonuria. Mol Genet Metab (2010) 0.89

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates. J Inherit Metab Dis (2001) 0.89

Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test. Mol Genet Metab (2004) 0.89

Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfall. J Inherit Metab Dis (2005) 0.88

Dihydropteridine reductase deficiency: levodopa's long-term effectiveness without dyskinesia. Neurology (2006) 0.88

Fatty acid and amino acid modulation of glucose cycling in isolated rat hepatocytes. Biochem J (2001) 0.87

Expression and characterization of recombinant human and rat liver 6-pyruvoyl tetrahydropterin synthase. Modified cysteine residues inhibit the enzyme activity. Eur J Biochem (1994) 0.87

Tyrosinemia type I treated by NTBC: how does AFP predict liver cancer? Mol Genet Metab (2006) 0.87

6-pyruvoyl tetrahydropterin synthase from salmon liver: amino acid sequence analysis by tandem mass spectrometry. Biochem Biophys Res Commun (1992) 0.87

Information processing in patients with early and continuously-treated phenylketonuria. Eur J Pediatr (1995) 0.87

Phenylketonuria. The in vivo hydroxylation rate of phenylalanine into tyrosine is decreased. J Clin Invest (1998) 0.86

Increased VLDL in nephrotic patients results from a decreased catabolism while increased LDL results from increased synthesis. Kidney Int (1998) 0.86

Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia. Hum Genet (1998) 0.86

Effect of ionophores on intralysosomal pH. Biochim Biophys Acta (1976) 0.86

Simple rapid method for the separation and quantitative analysis of carbohydrates in biological fluids. J Chromatogr (1979) 0.86

Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes. Clin Chim Acta (1993) 0.86

Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase. Eur J Biochem (1996) 0.85

7-Substituted pterins. A new class of mammalian pteridines. J Biol Chem (1990) 0.85

Retrovirus-mediated double transduction of the GTPCH and PTPS genes allows 6-pyruvoyltetrahydropterin synthase-deficient human fibroblasts to synthesize and release tetrahydrobiopterin. J Neurochem (1998) 0.85

Successful treatment of phenylketonuria with tetrahydrobiopterin. Eur J Pediatr (2001) 0.85

Tetrahydrobiopterin as another EDRF in man. Biochem Biophys Res Commun (1994) 0.84

GTP-cyclohydrolases: a review. J Clin Chem Clin Biochem (1985) 0.84

Interleukin 1 beta and cAMP trigger the expression of GTP cyclohydrolase I in rat renal mesangial cells. Biochem J (1996) 0.83

Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency. Clin Genet (2009) 0.83

MR spectroscopy of the brain in Leigh syndrome. Brain Dev (2008) 0.83

Urinary saturation and nephrocalcinosis in preterm infants: effect of parenteral nutrition. Arch Dis Child (1993) 0.83

Plasma phenylalanine in patients with phenylketonuria self-managing their diet. Arch Dis Child (2005) 0.82

Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency. J Inherit Metab Dis (2006) 0.82

Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings. J Inherit Metab Dis (2002) 0.82

Xanthinuria in a family of Cavalier King Charles spaniels. Vet Q (1997) 0.82

A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency. J Inherit Metab Dis (1995) 0.82

1H MR spectroscopy of the brain in Cr transporter defect. Mol Genet Metab (2005) 0.82