Impaired arachidonic (20:4n-6) and docosahexaenoic (22:6n-3) acid synthesis by phenylalanine metabolites as etiological factors in the neuropathology of phenylketonuria

Molecular Genetics and Metabolism

Volumn 72, Issue 3, 2001, Pages 185-198

  Infante, Juan P ^a   Huszagh, Virginia A ^a  

^a Institute for Theoretical Biochemistry and Molecular Biology   (United States)

Author keywords

Carnitine; Fetal alcohol syndrome; Long chain 3 hydroxyacyl CoA dehydrogenase; Microcephaly; Mitochondria; Peroxisomal disorders; Teratogen; Tocopherol; Ubiquinone

Indexed keywords

4 HYDROXYPHENYLPYRUVATE DIOXYGENASE; ACYL COENZYME A DESATURASE; ALCOHOL; ALPHA TOCOPHEROL; ARACHIDONIC ACID; ATROLACTIC ACID; CARNITINE; DOCOSAHEXAENOIC ACID; PHENYLALANINE; PHENYLPYRUVIC ACID; POLYUNSATURATED FATTY ACID; TERATOGENIC AGENT; UBIQUINONE;

ANIMAL MODEL; ARACHIDONIC ACID METABOLISM; BRAIN DEVELOPMENT; BRAIN MITOCHONDRION; DIET RESTRICTION; DIET SUPPLEMENTATION; FATTY ACID METABOLISM; FETAL ALCOHOL SYNDROME; HYPERPHENYLALANINEMIA; MENTAL DEFICIENCY; MICROCEPHALY; MYELINATION; NEUROPATHOLOGY; PHENYLKETONURIA; PLACENTAL TRANSFER; PRIORITY JOURNAL; SHORT SURVEY;

EID: 0035715131     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2001.3148     Document Type: Article

References (170)

1. Über ausscheidung von phenylbrenztraubensäure in den harn als stoffwechselanomalie in verbindung mit imbezillitãt. Hoppe
2. The discovery of phenylketonuria
3. The discovery of phenylketonuria: The story of a young couple, two retarded children, and a scientist
4. The hyperphenylalaninemias
5. Neonatal mass screening for metabolic disorders: Summary of recent sessions of the committee of experts to study inborn metabolic diseases
6. The structural basis of phenylketonuria
7. Molecular basis of phenylketonuria and related hyperphenylalaninemias: Mutations and polymorphisms in the human phenylalanine hydroxylase gene
8. PAH mutation analysis consortium database, 1997: Prototype for relational locus-specific mutation databases
9. Hyperphenylalaninemia: Diagnosis and classification of the various types of phenylalanine hydroxylase EC 1.14.16.1 deficiency in childhood
10. Content of phenylalanine, tyrosine and their metabolites in CSF in phenylketonuria
11. The hyperphenylalaninemias of man and mouse
12. " Hypotyrosinemia" in phenylketonuria
13. Neuropathology of phenylketonuria
14. Lipid composition of human cerebral white matter and myelin in phenylketonuria
15. Neurological aspects of adult phenylketonuria
16. Phenylketonuria: Diet for life or not?
17. Management of phenylketonuria for optimal outcome: A review of guidelines for phenylketonuria management and a report of surveys of parents, patients, and clinic directors
18. Survey of national guidelines for the treatment of phenylketonuria
19. Maternal hyperphenylalanemia fetal effects
20. Maternal phenylketonuria pregnancy outcome: A preliminary report of facial dysmorphology and major malformations
21. Maternal phenylketonuria: A metabolic teratogen
22. Maternal phenylketonuria: Magnetic resonance imaging of the brain in offspring
23. Maternal phenylketonuria collaborative study (MPKUCS) offspring: Facial anomalies, malformations, and early neurological sequelae
24. Maternal phenylketonuria syndrome: Congenital heart defects, microcephaly, and developmental outcomes
25. Maternal phenylketonuria: An international study
26. Effects of maternal hyperphenylalaninemia on fetal brain development: A morphological study
27. Repeated adverse fetal outcome in pregnancy complicated by uncontrolled maternal phenylketonuria
28. When is careless conception a form of child abuse? Lessons from maternal phenylketonuria
29. Monogenic traits are not simple
30. Phenotypes of patients with "simple" Mendelian disorders are complex traits: Thresholds, modifiers, and systems dynamics
31. The accumulation of arachidonate and docosahexaenoate in the developing rat brain
32. Fatty acid composition of late embryonic and early postnatal rat brain
33. Tissue levels of polyunsaturated fatty acids during early human development
34. Elongation, desaturation, and esterification of essential fatty acids by fetal rat brain in vivo
35. Developmental changes in rat brain membrane lipids and fatty acids: The preferential prenatal accumulation of docosahexaenoic acid
36. Dietary requirements and functions of α-linolenic acid in animals
37. 2+-ATPase calcium transport
38. The essentiality of n-3 fatty acids for the development and function of the retina and brain
39. Essential fatty acids in growth and development
40. Maternal essential fatty acid patterns during normal pregnancy and their relationship to the neonatal essential fatty acid status
41. Brain docosahexaenoate accretion in fetal baboons: Bioequivalence of dietary alpha-linolenic and docosahexaenoic acids
42. Bioequivalence of dietary alpha-linolenic and docosahexaenoic acids as sources of docosahexaenoate accretion in brain and associated organs of neonatal baboons
43. Long chain polyunsaturated fatty acid formation in neonates: Effect of gestational age and intrauterine growth
44. On the molecular etiology of decreased arachidonic (20:4n-6), docosapentaenoic (22:5n-6) and docosahexaenoic (22:6n-3) acids in Zellweger syndrome and other peroxisomal disorders
45. Analysis of the putative role of 24-carbon polyunsaturated fatty acids in the biosynthesis of docosapentaenoic (22:5n-6) and docosahexaenoic (22:6n-3) acids
46. A function for the vitamin E metabolite α-tocopherol quinone as an essential enzyme cofactor for the mitochondrial fatty acid desaturases
47. Secondary carnitine deficiency and impaired docosahexaenoic (22:6n-3) acid synthesis: A common denominator in the pathophysiology of diseases of oxidative phosphorylation and β-oxidation
48. Synthesis of fatty acids in animal tissues
49. Biosynthesis of long chain fatty acids by subcellular particles of mature brain
50. Colwellia demingiae sp. nov., Colwellia hornerae sp. nov., Colwellia rossensis sp. nov. and Colwellia psychrotropica sp. nov.: Psychrophilic Antarctic species with the ability to synthesize docosahexaenoic acid (22:6ω3)
51. Polyunsaturated fatty acids in marine bacteria - A dogma rewritten
52. Isolation of clustered genes that are notably homologous to the eicosapentaenoic acid biosynthesis gene cluster from the docosahexaenoic acid-producing bacterium Vibrio marinus strain MP-1
53. Occurrence and function of α-tocopherol quinone in plants
54. Biotransformation of tocopherols by Streptomyces catenulae
55. 14 to tocopheryl-p-quinone in vivo
56. 14C]-α-tocopherol
57. Synthesis of α-tocopherolquinone by the rat and its reduction by mitochondria
58. Alpha-tocopherol concentration in fetal and maternal issues of pregnant rats supplemented with alpha-tocopherol
59. Quantitative sub-femtomole analysis of α-tocopherol and deuterated isotopomers in plasma using tabletop GC/MS/MS
60. Localization of α-tocopherol transfer protein in the brains of patients with ataxia with vitamin E deficiency and other oxidative stress related neurodegenerative disorders
61. Vitamin E in humans: Demand and delivery
62. Localization of α-tocopherol transfer protein in rat brain
63. Nature, intracellular distribution and formation of terpenoid quinones in maize and barley shoots
64. Biosynthesis of phytoquinones. Homogentisic acid: A precursor of plastoquinones, tocopherols and α-tocopherolquinone in higher plants, green algae and blue-green algae
65. The substrate specificity of tocopherol cyclase
66. Seed-specific overexpression of phytoene synthase: Increase in carotenoids and other metabolic effects
67. p-Hydroxyphenylpyruvate oxidase of liver
68. Human 4-hydroxyphenylpyruvate dioxygenase gene (HPD)
69. Chronic tyrosinemia associated with 4-hydroxyphenylpyruvate dioxygenase deficiency with acute intermittent ataxia and without visceral and bone involvement
70. Acidic metabolites of phenylalanine in plasma of phenylketonurics
71. Assay, properties and tissue distribution of p-hydroxyphenylpyruvate hydroxylase
72. Purification and some properties of human 4-hydroxyphenylpyruvate dioxygenase (I)
73. Studies on phenylketonuria. II. The excretion of o-hydroxyphenylacetic acid in phenylketonuria
74. Neuropathological findings in phenyl-pyruvic oligophrenia (phenyl-ketonuria)
75. Excretion of phenylpyruvic, 4-hydroxyphenylpyruvic and indolyl-3-acetic acids by the skin fibroblasts from a phenylketonuric child
76. Screening for tocopherol-producing microorganisms and α-tocopherol production by Euglenia gracilis Z
77. Reduced plasma C-20 and C-22 polyunsaturated fatty acids in children with phenylketonuria during dietary intervention
78. Polyunsaturated fatty acid status in patients with phenylketonuria
79. Lipid status and fatty acid metabolism in phenylketonuria
80. Fatty acid patterns in triglycerides, diglycerides, free fatty acids, cholesteryl esters and phosphatidylcholine in serum from vegetarians and non-vegetarians
81. Plasma fatty acid profile and alternative nutrition
82. Serum fatty acid, lipid profile and dietary intake of Hong Kong Chinese omnivores and vegetarians
83. Reduced plasma C-20 and C-22 polyunsaturated fatty-acids in children with phenylketonuria during dietary intervention
84. Long-chain polyunsaturated fatty acids in plasma and erythrocyte membrane lipids of children with phenylketonuria after controlled linoleic acid intake
85. Effects of long-chain polyunsaturated fatty acid supplementation on fatty acid status and visual function in treated children with hyperphenylalaninemia
86. Inadequate iron availability as a possible cause of low serum carnitine concentrations in patients with phenylketonuria
87. Serum carnitine levels in phenylketonuric children under dietary control in Greece
88. Controlled diet in phenylketonuria may cause serum carnitine deficiency
89. Nutritional deprivation of α-linolenic acid decreases but does not abolish turnover and availability of unacylated docosahexaenoic acid and docosohexaenoyl-CoA in rat brain
90. Behaviour in early treated phenylketonuria: A systematic review
91. Health benefits of docosahexaenoic acid (DHA)
92. Omega-3 polyunsaturated fatty acid levels in the diet and in red blood cell membranes of depressed patients
93. Patterns of academic achievement among patients treated early with phenylketonuria
94. Subclinical visual impairment in phenylketonuria. A neurophysiological study (VEP-P) with clinical, biochemical, and neuroradiological (MRI) correlations
95. Fatty acid composition of lipids in cerebral myelin and synaptosomes in phenylketonuria and down syndrome
96. Effect of hyperphenylalaninemia on fatty acid composition of lipids of rat brain myelin
97. Alpha-linolenic acid and eicosapentaenoic acid
98. The effect of dietary supplements of ω 3 polyunsaturated fatty acids on the fatty acid composition of platelets and plasma choline phosphoglycerides
99. Neurodevelopmental quotient of health term infants at 4 months and feeding practice: The role of long-chain polyunsaturated fatty acids
100. Age- and dietary-related distributions of hepatic arachidonic and docosahexaenoic acid in early infancy
101. Brest-fed infants achieve a higher rate of brain and whole body docosahexaenoate accumulation than formula-fed infants not consuming dietary docosahexaenoate
102. 2 concentrations in phenylketonuric children negatively correlate with dietary compliance
103. Fatty acid composition of human brain phospholipids during normal development
104. Fatty acid and fatty aldehyde composition of the major brain lipids in normal human gray matter, white matter, and myelin
105. Neuropathology of phenylketonuria
106. Impaired myelin formation in experimental hyperphenylalaninemia
107. Pattern reversal visual evoked potentials in phenylketonuria
108. The neuropathology of phenylketonuria: Human and animal studies
109. Neonatal changes in fatty acid profile of phospholipids in rat heart muscle
110. The extending astroglial process: Development of glial cell shape, the growing tip, and interactions with neurons
111. Mitochondrial maturation during neuronal differentiation in vivo and in vitro
112. Photoreceptor differentiation of retinoblastoma: An electron microscopic study of 29 retinoblastomas
113. Evidence for mitochondrial control of neuronal polarity
114. Organisation of mitochondria in living sensory neurons
115. Three-dimensional organisation of mitochondrial clusters in regenerating dorsal root ganglion (DRG) neurons from neonatal rats: Evidence for mobile mitochondrial pools
116. Mitochondrial framework (reticulum mitochondriale) in rat diaphragm muscle
117. Changing fatty acid content of growth cone lipids prior to synaptogenesis
118. Dietary n-3 fatty acid restriction during gestation in rats: Neuronal cell body and growth-cone fatty acids
119. Integrating functions of biomembranes: Problems of lateral transport of energy, metabolites and electrons
120. Power transmission along biological membranes
121. Preferential localization of active mitochondria in process tips of immature retinal oligodendrocytes
122. Focal accumulation of intra-axonal mitochondria in demyelination of the cat optic nerve
123. Retarded development of neurons and oligodendroglia in rat forebrain produced by hyperphenylalaninemia results in permanent deficits in myelin despite long recovery periods
124. Evidence for central nervous system glial cell plasticity in phenylketonuria
125. A clinical neuropathological study of the fetal alcohol syndrome
126. Effects of alcohol on the generation and migration of cerebral cortical neurons
127. Ethanol-induced disturbances of gliogenesis and neurogenesis in the developing murine brain: An in vitro and in vivo immunohistochemical and ultrastructural study
128. Cardiac mitochondrial abnormalities in a mouse model of the fetal alcohol syndrome
129. β-Oxidation in human alcoholic and non-alcoholic hepatic steatosis
130. Effect of maternal ethanol consumption during pregnancy on the phospholipid species composition of fetal guinea-pig brain, liver and plasma
131. Ethanol consumption by lactating rats induces changes in pup's fatty acid profiles
132. Mechanisms and disturbances of neuronal migration
133. Plasma and red blood cell fatty acids in peroxisomal disorders
134. Therapeutic effects of docosahexaenoic acid ethyl ester in patients with generalized peroxisomal disorders
135. MRI evidence that docosahexaenoic acid ethyl ester improves myelination in generalized peroxisomal disorders
136. Carnitine palmitoyltransferase deficiencies
137. Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Possible diagnostic pitfalls
138. Long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency neuropathy: Response to cod liver oil
139. Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD): A case report and survey
140. Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
141. Stable pigmentary retinopathy in a child with 3-hydroxyacyl-CoA dehydrogenase deficiency
142. The PKU mouse project: Its history, potential and implications
143. A heteroallelic mutant mouse model: A new orthologue for human hyperphenylalaninemia
144. Measurement of phenyllactate, phenylacetate, and phenylpyruvate by negative ion chemical ionization-gas chromatography/mass spectrometry in brain of mouse genetic models of phenylketonuria and non-phenylketonuria hyperphenylalaninemia
145. Effect of low intake of n-3 fatty acids during development on brain phospholipid fatty acid composition and exploratory behavior in rats
146. Cognitive deficits in a genetic mouse model of the most common biochemical cause of human mental retardation
147. Effects of dietary alpha-linolenic acid deficiency on neuromuscular and cognitive functions in mice
148. Learning deficits in first generation OF1 mice deficient in (n-3) polyunsaturated fatty acids do not result from visual alteration
149. The enzymatic formation of o-hydroxyphenylacetic acid
150. Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria
151. Neuropsychology of early-treated phenylketonuria: Specific executive function deficits
152. Intelligence of the unidentified phenylketonuric child
153. In vivo proton magnetic resonance spectroscopy in phenylketonuria
154. Early breastfeeding is linked to higher intelligence quotient scores in dietary treated phenylketonuric children
155. A comparison of the influence of breast-feeding and bottle-feeding on the fatty acid composition of the erythrocytes
156. Docosahexaenoic acid status of term infants fed breast milk or infant formula containing soy oil or corn oil
157. Enzymatic determination of carnitine in milk and infant formula
158. Fatty acid status of PKU children three years after LCPUFA supplementation
159. Long chain polyunsaturated fatty acid (LC PUFA) supplementation of a low phenylalanine (Phe) infant formula - Growth, antioxidant status and Phe control
160. Maternal essential fatty acid patterns during normal pregnancy and their relationship to the neonatal essential fatty acid status
161. Pregnancy reduces arachidonic and docosahexaenoic in plasma triacylglycerols of Korean women
162. Relationship between birth order status and the maternal and neonatal docosahexaenoic acid status
163. Fatty acid supplementation in a case of maternal phenylketonuria
164. Ubiquinone-10 in phenylketonuria
165. Decreased serum ubiquinone-10 concentrations in phenylketonuria
166. Ubiquinone deficiency in PKU. The influence of phenylalanine and dietary control
167. Biosynthesis of ubiquinone
168. New advances in coenzyme Q biosynthesis
169. Plasma concentration, urinary excretion and renal clearance of L-carnitine during pregnancy: A reversible secondary L-carnitine deficiency
170. Pregnancy-related changes of carnitine and acylcarnitine concentrations of plasma and erythrocytes