Abstract:
:Both severe impairments of brain development in untreated infants and acute reversible neurotoxic effects on brain function are clinical features of phenylketonuria (PKU). For determining whether impairments of cerebral energy metabolism play a role in the pathophysiology of PKU, quantitative in vivo 31P magnetic resonance spectroscopy (MRS) was performed in a supratentorial voxel of 11 adult PKU patients and controls. Peak areas of inorganic phosphate; phosphocreatine; alpha-, beta-, and gamma-ATP; NAD; phosphomonoesters; phosphodiesters; and a broad phospholipid signal were converted to millimolar concentrations. Mg2+, pH, ADP, the phosphorylation potential, and the relative velocity of oxidative metabolism V/Vmax were derived. Clinical evaluation included mutation analysis, neurologic investigation, intelligence testing, magnetic resonance imaging, and concurrent plasma and brain phenylalanine (Phe), the last by 1H-MRS. Phe loading was performed in five patients with an oral dose of 100 mg/kg body wt L-Phe monitored by spectral EEG analysis. Under steady-state conditions, 31P-MRS revealed normal values for ATP, phosphocreatine, NAD, phosphomonoesters, phosphodiesters, Mg2+, and pH in PKU. ADP (+11%) and the phosphorylation potential (+22%) were increased. Peak areas of inorganic phosphate (-22%) and phospholipid (-8%) were decreased. ADP correlated with concurrent plasma (r = 0.65) and brain (r = 0.55) Phe. During the Phe load, blood Phe levels increased steeply. EEG revealed slowing of background activity. The phosphorylation potential decreased, whereas ADP and V/Vmax increased. In vivo 31P-MRS demonstrated subtle abnormalities of cerebral energy metabolism in PKU in steady-state conditions that were accentuated by a Phe load, indicating a link between Phe neurotoxicity and imbalances of cerebral energy metabolism.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Pietz J,Rupp A,Ebinger F,Rating D,Mayatepek E,Boesch C,Kreis Rdoi
10.1203/01.PDR.0000055867.83310.9Esubject
Has Abstractpub_date
2003-04-01 00:00:00pages
654-62issue
4eissn
0031-3998issn
1530-0447pii
01.PDR.0000055867.83310.9Ejournal_volume
53pub_type
杂志文章abstract::Early childhood overweight and obesity have alarmingly increased over the years. Adulthood obesity is a well demonstrated significant independent predictor of cardiovascular risk (CVR) and/or mortality, which predisposes to the major components of metabolic syndrome (MS). Evidence of MS in obese children has been also...
journal_title:Pediatric research
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journal_title:Pediatric research
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更新日期:1980-01-01 00:00:00
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doi:10.1203/00006450-197606000-00007
更新日期:1976-06-01 00:00:00
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更新日期:2001-02-01 00:00:00
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pub_type: 杂志文章
doi:10.1203/00006450-198405000-00012
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journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1203/00006450-198503000-00001
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journal_title:Pediatric research
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journal_title:Pediatric research
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doi:10.1203/PDR.0b013e3181256aeb
更新日期:2007-09-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
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更新日期:1998-02-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
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更新日期:1993-09-01 00:00:00
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journal_title:Pediatric research
pub_type: 临床试验,杂志文章
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更新日期:2007-11-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199010000-00005
更新日期:1990-10-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
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