1200 micromol/L), "mild" (600-1200 micromol/L), or "non-phenylketonuria (PK" />
Abstract:
:Based on the serum phenylalanine levels under free diet patients with hyperphenylalaninemia are classified as "classical" (>1200 micromol/L), "mild" (600-1200 micromol/L), or "non-phenylketonuria (PKU)-hyperphenylalaninemia" (<600 micromol/L). Recent studies revealed intellectual, neurologic, and neuropsychologic deficits as well as abnormalities of cerebral white matter (magnetic resonance imaging, MRI) in patients with early and adequately treated PKU. In addition deficits in IQ were reported for a group of 4-y-old patients with untreated mild PKU and non-PKU hyperphenylalaninemia (serum phenylalanine levels below 900 micromol/L). As a consequence, a lifelong diet with serum phenylalanine levels below 400 micromol/L was recommended even for those patients with serum phenylalanine levels remaining consistently between 400 and 600 micromol/L. Generally patients with non-PKU hyperphenylalaninemia were not treated, as a normal outcome was suspected, but the clinical development of patients with non-PKU hyperphenylalaninemia was not so far studied systematically. We assessed 28 untreated patients with non-PKU hyperphenylalaninemia (age: mean = 21.8, SD = 4.2 y) for IQ, school and job career, clinical-neurologic development, fine motor performances, selective and sustained attention, as well as for frontal lobe-dependent "executive functions." In addition, cranial MRI was obtained in 10 of these patients. Compared with healthy control subjects, matched for age, sex, and socioeconomic status, the patients reached normal results in all clinical and psychometric tests. Cranial MRI revealed no abnormalities. Additionally, no significant correlations between serum phenylalanine levels and test results were obtained. In the absence of any demonstrative effect, treatment is unlikely to be of significant effect in patients with non-PKU hyperphenylalaninemia.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Weglage J,Ullrich K,Pietsch M,Fünders B,Güttler F,Harms Edoi
10.1203/00006450-199709000-00020subject
Has Abstractpub_date
1997-09-01 00:00:00pages
378-84issue
3eissn
0031-3998issn
1530-0447journal_volume
42pub_type
杂志文章abstract::Five patients with Bartter's syndrome were investigated. Sodium restriction (less than 10 mEq/day for at least 5 days) showed a renal sodium wastage in only two patients (I and II) in spite of increased aldosterone secretion rate (from 151-427 to 680-842 mug/day). The effect of angiotensin II (A II) 80ng/kg/min for 30...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197612000-00005
更新日期:1976-12-01 00:00:00
abstract::The purpose of this study was to begin to examine the influence of inhaled NO on O2 toxicity. The survival of Sprague-Dawley rats exposed to >95% O2, >95% O2 + 10 ppm NO, >95% O2 + 100 ppm NO, and >95% O2 + 3 ppm NO2 was determined. Survival at 120 h was 2/24 in >95% O2, 2/12 in >95% O2 + 10 ppm NO, and 1/12 in >95% O...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199806000-00003
更新日期:1998-06-01 00:00:00
abstract:BACKGROUND:Postnatal glucocorticoid therapy in the treatment of chronic lung disease benefits lung function, however it adversely affects brain development. We hypothesized that combined postnatal glucocorticoid and statin therapy diminishes adverse effects of glucocorticoids on the developing brain. METHODS:On postna...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2013.152
更新日期:2013-12-01 00:00:00
abstract:BACKGROUND:Caffeine is a nonspecific adenosine receptor antagonist used in premature neonates to treat apnea of prematurity. While its use may reduce the incidence of bronchopulmonary dysplasia (BPD), the precise mechanisms remain unknown. Evidence of increased adenosine levels are noted in chronic lung diseases includ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2013.233
更新日期:2014-03-01 00:00:00
abstract::Our objective was to determine the quantitative changes of individual triacylglycerol (TG) species in liver and carcass during early postnatal growth. Pregnant rats were killed at d 21 of pregnancy, and neonatal rats were killed at d 3 or 9 after birth. Quantitative changes in fatty acids and TG species of fetal/neona...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199201000-00009
更新日期:1992-01-01 00:00:00
abstract::The presence of high concentrations of sodium in the sweat of patients with cystic fibrosis is widely accepted by all investigators as one of the most important manifestations of the genetic defect. However, the simple means of sweat collection utilized for diagnostic purposes has been extended to the biochemical and ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198508000-00020
更新日期:1985-08-01 00:00:00
abstract::We have previously demonstrated that enterally administered heparin-binding EGF-like growth factor (HB-EGF) produced in Escherichia coli decreases the incidence and severity of intestinal injury in a neonatal rat model of necrotizing enterocolitis (NEC). In preparation for upcoming human clinical trials, large-scale p...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181994fa0
更新日期:2009-04-01 00:00:00
abstract:BACKGROUND:Bronchopulmonary dysplasia (BPD) is the most common and serious chronic lung disease of premature infants. Connective tissue growth factor (CTGF) plays an important role in tissue development and remodeling. We have previously shown that targeted overexpression of CTGF in alveolar type II epithelial cells re...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.52
更新日期:2016-07-01 00:00:00
abstract::Long-term parenteral nutrition (TPN) in children is associated with sustained hyperinsulinemia due to a high nutriment infusion flow 12 h/24 h, with plausible lipotoxicity secondary to repeated lipid infusions and with changes in incretin hormone release. The aim of this study was to test whether long-term TPN can lea...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章
doi:10.1203/PDR.0b013e3181559d5c
更新日期:2007-11-01 00:00:00
abstract::Genetic typing of serum transferrin was performed in a group of 88 extremely premature infants (gestation age less than 32 wk) and in a control group of 351 full-term infants, using isoelectric focusing technique on ultrathin layer of polyacrilamide gel. A major incidence of C2 type was found among the preterm infants...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198212000-00011
更新日期:1982-12-01 00:00:00
abstract::Leukotriene B4 (LTB4) is a product of arachidonic acid metabolism and a potent chemoattractant for adult polymorphonuclear leukocytes (PMN). LTB4 may be an important inflammatory mediator in neonatal lung disorders such as bronchopulmonary dysplasia, but neonatal PMN chemotaxis to LTB4 has not been studied. We compare...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199303000-00006
更新日期:1993-03-01 00:00:00
abstract:BACKGROUND:Current tools to predict the severity of respiratory syncytial virus (RSV) infection might be improved by including immunological parameters. We hypothesized that a combination of inflammatory markers would differentiate between severe and mild disease in RSV-infected children. METHODS:Blood and nasopharyng...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2012.163
更新日期:2013-02-01 00:00:00
abstract:BACKGROUND:Phytosterols in soybean oil (SO) lipids likely contribute to parenteral nutrition-associated liver disease (PNALD) in infants. No characterization of phytosterol metabolism has been done in infants receiving SO lipids. METHODS:In a prospective cohort study, 45 neonates (36 SO lipid vs. 9 control) underwent ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2015.78
更新日期:2015-08-01 00:00:00
abstract::Energy and nitrogen balances were measured in growing low birthweight infants fed either mother's expressed breast milk or a 20 kcal per ounce formula to determine whether or not there were differences between the two dietary groups in (1) the partition of energy among excretion, expenditure, and storage and (2) the r...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198311000-00011
更新日期:1983-11-01 00:00:00
abstract::Immunosuppressive effects of carrageenan, a high-molecular-weight polysaccharide, on antibody and T cell responses have been previously demonstrated. However, its effect on anaphylaxis is unknown. Our objectives were to test carrageenan-mediated oral tolerance induction in young mice subsequently sensitized to a commo...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200103000-00018
更新日期:2001-03-01 00:00:00
abstract::The hypoxanthine concentration in plasma was found to be a sensitive parameter of hypoxia of the fetus and the newborn infant. The plasma level of hypoxanthine in the umbilical cord in 29 newborn infants with normal delivery varied between 0 and 11.0 mumol/liter with a mean of 5.8 mumol/liter, SD 3.0 mumol/liter. Comp...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197504000-00002
更新日期:1975-04-01 00:00:00
abstract::Although the pathogenesis of necrotizing enterocolitis remains uncertain, ischemia appears to be an important contributing factor to the development of this disorder. Reperfusion plays a major role in ischemia-related injury, and oxygen free radicals produced during reperfusion most likely contribute to the injury. Th...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199708000-00009
更新日期:1997-08-01 00:00:00
abstract:BACKGROUND:To evaluate the apoptosis inhibitor of macrophage (AIM) deposition patterns on the kidneys of children with IgA nephropathy (IgAN) and Henoch-Schönlein purpura nephritis (HSPN) and to investigate the clinical usefulness of serum and/or urinary AIM levels as biomarkers for the disease activity. METHODS:Immun...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-0951-1
更新日期:2020-05-14 00:00:00
abstract:BACKGROUND:Encephalopathic neonates undergoing therapeutic hypothermia have increased risk for coagulopathy secondary to perinatal asphyxia and effects of cooling on the coagulation enzyme cascade. Thromboelastography (TEG) allows for a comprehensive assessment of coagulation that can be regulated for temperature. TEG ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2014.19
更新日期:2014-05-01 00:00:00
abstract::Uteroplacental insufficiency alters the anabolic metabolism of the fetus, resulting in intrauterine growth retardation (IUGR). The metabolic and physiologic factors that cause IUGR have long standing consequences after birth. Postnatal growth and glucose metabolism are altered in the IUGR infant. Skeletal muscle is an...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199805000-00001
更新日期:1998-05-01 00:00:00
abstract:UNLABELLED:The hGH response to an ornithin or an insulin test was measured in 105 children from 11-18 yr old with delay of growth more than 2 SD. Besides 74 subjects with normal values and 7 with complete lack of response, 24 subjects exhibited a partial rise of GH. Most of the latter had decreasing growth rate and no ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197904000-00002
更新日期:1979-04-01 00:00:00
abstract:BACKGROUND:Previous studies indicate an increased risk for neuropsychological difficulties in young children prenatally exposed to opioids and polysubstances, but longitudinal information is scarce. The present longitudinal study investigated whether these waned, persisted, or increased over time. METHODS:The cognitiv...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2015.95
更新日期:2015-09-01 00:00:00
abstract:BACKGROUND:Prolonged hypoglycemia leads to brain injury, despite treatment with 10% dextrose. Whether induction of hyperglycemia or ketonemia achieves better neuroprotection is unknown. Hyperglycemia is neuroprotective in other brain injuries during development; however, it worsens hypoglycemia-induced injury in the ad...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2014.146
更新日期:2015-01-01 00:00:00
abstract::We studied choline uptake by slices of adult and 10-day-old rat intestine which were exposed on their mucosal surface to radiolabeled choline. Both neonatal and adult intestine transported choline. Choline uptake was observed in duodenum, jejunum, ileum, and colon of the adult rat. In the small intestine, choline upta...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198608000-00014
更新日期:1986-08-01 00:00:00
abstract::Cerebral concentrations of phenylalanine (PHE) were measured by means of quantitative in vivo 1H MR spectroscopy in 8 adult patients treated early for phenylketonuria type I. A 1.5-Tesla routine magnetic resonance scanner, localization sequence with short echo time (20 ms), and a fully automated data processing scheme...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199511000-00005
更新日期:1995-11-01 00:00:00
abstract::The developmental stages of each foregut organ are intimately linked to the development of the other foregut organs such that the ultimate function of any one foregut organ, such as the metabolic function of the liver, depends on organizational changes associated with the maturation of multiple foregut organs. These c...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/pr.2013.201
更新日期:2014-01-01 00:00:00
abstract::Women who are at risk of preterm delivery are treated with antenatal steroids to facilitate fetal lung maturation. During this period, there is a potential for fetal or maternal hypoxemia to occur. Fetal responses to hypoxemia in sheep are well documented. However, less is known regarding maternal responses to hypoxem...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000117847.59343.B2
更新日期:2004-05-01 00:00:00
abstract::Astrocyte end-feet ensheathe blood vessels in the brain and are believed to provide structural integrity to the cerebral vasculature. We sought to determine in developing infants whether the coverage of blood vessels by astrocyte end-feet is decreased in germinal matrix (GM) compared with cerebral cortex and white mat...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000214975.85311.9c
更新日期:2006-05-01 00:00:00
abstract::Neonatal group B streptococcal (GBS) sepsis produces pulmonary arterial hypertension and hypoxemia that are preventable by pretreatment with the selective thromboxane A2 synthase inhibitor, dazmegrel. In the present experiment we administered dazmegrel (8 mg/kg) 2 h after the initiation of a 2 1/2 h infusion of 5 X 10...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198804000-00003
更新日期:1988-04-01 00:00:00
abstract::Deficient quantity of amniotic fluid causes fetal guinea pig lung hypoplasia. Oligohydramnios that lasts only 5 days in early gestation is sufficient to reduce fetal lung growth significantly. We quantitated lung structural alterations at 50 days gestation (term is 67 days) of fetal guinea pigs whose amniotic fluid wa...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198610000-00013
更新日期:1986-10-01 00:00:00