Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type II.

Abstract:

:Newly identified forms of electron transfer flavoprotein (ETF) deficiency in two patients with glutaric aciduria type II (GA II) were described. GA II has been attributed to a defect of either ETF or ETF dehydrogenase, resulting in multiple acyl-CoA dehydrogenation deficiency. ETF is a mitochondrial flavoprotein consisting of an alpha-subunit, alpha-ETF, and a beta-subunit, beta-ETF. We used pulse-chase experiments to examine the biosynthesis of ETF in fibroblasts from two patients with GA II. Patient 1 was a boy with the neonatal onset form, but without congenital anomalies, who is living at age 2 y. A defect of beta-ETF biosynthesis was noted in this patient. Patient 2 was a boy with the neonatal onset form with congenital anomalies who died on the 3rd postnatal day. He presented with a peculiar face and polycystic kidneys. In patient 2, both alpha- and beta-ETF were synthesized, but both the subunits were rapidly degraded. The lability of ETF was considered to be the cause of GA II in this patient. These two cases appear to be new forms of ETF deficiency in GA II.

journal_name

Pediatr Res

journal_title

Pediatric research

authors

Yamaguchi S,Orii T,Suzuki Y,Maeda K,Oshima M,Hashimoto T

doi

10.1203/00006450-199101000-00012

subject

Has Abstract

pub_date

1991-01-01 00:00:00

pages

60-3

issue

1

eissn

0031-3998

issn

1530-0447

journal_volume

29

pub_type

杂志文章
  • Effect of intrauterine growth restriction on the number of cardiomyocytes in rat hearts.

    abstract::Epidemiologic studies have linked intrauterine growth restriction (IUGR) with an increased incidence of cardiovascular disease later in life; reduced cardiomyocyte number in IUGR hearts may underlie such prenatal programming. Our aim was to examine the effect of IUGR, as a result of maternal protein restriction, on th...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/01.PDR.0000157726.65492.CD

    authors: Corstius HB,Zimanyi MA,Maka N,Herath T,Thomas W,van der Laarse A,Wreford NG,Black MJ

    更新日期:2005-06-01 00:00:00

  • Hyperalphalipoproteinemia, birth to age to years.

    abstract::Interrelationships of high-density lipoprotein cholesterol (C-HDL) with total plasma cholesterol (TC), triglyceride, and low-density lipoprotein cholesterol, as well as longitudinal maintenance of C-HDL rank order (tracking) from birth to age 2 years were assessed in 76 hypercholesterolemic neonates (cord blood, TC gr...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-198101000-00016

    authors: Tsang RC,Neely K,Glueck CJ

    更新日期:1981-01-01 00:00:00

  • Lysosomal cystine transport in cystinosis variants and their parents.

    abstract::Children with nephropathic cystinosis store 50 to 100 times normal amounts of free cystine in many cells and display negligible lysosomal cystine transport in their leucocytes and cultured fibroblasts. A patient with intermediate (adolescent) cystinosis exhibited a similar deficiency of egress out of fibroblast lysoso...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-198702000-00016

    authors: Gahl WA,Tietze F

    更新日期:1987-02-01 00:00:00

  • The effects of altered nutritional status upon insulin-like growth factors and their binding proteins in neonatal rats.

    abstract::To investigate the role of nutrition in the regulation of IGFs during the perinatal period, 10-d-old rats were infused intravenously with various concentrations of nutrients for 24 h. Breast-fed litter mates served as controls. The effect of caloric intake on concentrations of IGF-I and IGF-II as well as IGF-binding p...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-198908000-00012

    authors: Philipps A,Drakenberg K,Persson B,Sjögren B,Eklöf AC,Hall K,Sara V

    更新日期:1989-08-01 00:00:00

  • Hepatic and cerebral energy metabolism after neonatal canine alimentation.

    abstract::Intrahepatic and intracerebral metabolic responses to neonatal fasting or enteric carbohydrate alimentation were investigated among newborn dogs. Pups were either fasted or given an intravenous glucose infusion (alimented) before an enteric feeding of physiologic quantities of either glucose or galactose. These pups w...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-198304000-00012

    authors: Kliegman RM,Miettinen EL,Morton SK

    更新日期:1983-04-01 00:00:00

  • Contribution of sarcoplasmic reticulum Ca²+ release and Ca²+ transporters on sarcolemmal channels to Ca²+ transient in fetal mouse heart.

    abstract::Sarcoplasmic reticulum (SR) Ca release has been shown not to be the predominant mechanism responsible for excitation-contraction (E-C) coupling in fetal myocytes. However, most of the studies have been conducted either on primary cultures or acutely isolated cells, in which an apparent reduction of ryanodine receptor ...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e31820bc69b

    authors: Takizawa M,Ishiwata T,Kawamura Y,Kanai T,Kurokawa T,Nishiyama M,Ishida H,Asano Y,Nonoyama S

    更新日期:2011-04-01 00:00:00

  • Carbohydrate and energy metabolism in the brain of rats with thromboxane A2-induced fetal growth restriction.

    abstract::Fetal growth restriction (FGR) remains a cause of perinatal brain injury, sometimes leading to neurological and intellectual impairment. Although the mechanisms and pathophysiology of CNS injuries have not been elucidated completely, it is possible carbohydrate and energy metabolism may have an important role in the F...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e31821b9d7c

    authors: Hayakawa M,Sato Y,Hattori T,Ichinohashi Y,Nakayama A,Yamamoto H,Hemmi H,Ito M,Ieda K,Kojima S

    更新日期:2011-07-01 00:00:00

  • Ligation of the common bile duct in the fetal lamb: an experimental model for the study of biliary atresia.

    abstract::Intrauterine ligation of the common bile duct was carried out in ten fetal lambs at approximately 80 days gestational age. Six of the fetal lambs survived until term and were sacrificed at varying periods until the 36th day of life. The lesion which developed resembled a "correctable" type of extrahepatic biliary atre...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-198005000-00007

    authors: Spitz L

    更新日期:1980-05-01 00:00:00

  • Blood metabolomics in infants enrolled in a dose escalation pilot trial of budesonide in surfactant.

    abstract:BACKGROUND:The pathogenesis of BPD includes inflammation and oxidative stress in the immature lung. Corticosteroids improve respiratory status and outcome, but the optimal treatment regimen for benefit with low systemic effects is uncertain. METHODS:In a pilot dose escalation trial, we administered ≤5 daily doses of b...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1038/s41390-020-01343-z

    authors: Ballard PL,Torgerson D,Wadhawan R,Hudak ML,Weitkamp JH,Harris J,Asselin J,Chapin C,Ballard RA,McEvoy CT

    更新日期:2021-01-19 00:00:00

  • Methylglyoxal concentrations differ in standard and washed neonatal packed red blood cells.

    abstract:BACKGROUND:Preterm infants have a greater risk of necrotizing enterocolitis following transfusion. It is hypothesized that high glucose concentrations in red blood cell (RBC) preservatives lead to increased methylglyoxal (MG) metabolism, causing glycation-driven damage to transfused RBCs. Such changes to the RBCs could...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1038/pr.2013.243

    authors: Kiefer AS,Fleming T,Eckert GJ,Poindexter BB,Nawroth PP,Yoder MC

    更新日期:2014-03-01 00:00:00

  • Immunologic studies of prothrombin in newborns.

    abstract::Prothrombin of newborns was investigated by means of the quantitative immunoelectrophoresis and the two-dimensional immunoelectrophoresis. The plasma of 10 of 24 healthy term newborns and of 5 preterm infants taken immediately after birth showed one prothrombin precipitate in the alpha-2-beta-globulin position when a ...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-197911000-00011

    authors: Muntean W,Petek W,Rosanelli K,Mutz ID

    更新日期:1979-11-01 00:00:00

  • The chronically reserpinized rat as a model for cystic fibrosis: alterations in pancreatic enzyme secretion and storage.

    abstract::Alterations in the pancreatic secretion of fluid and of enzymes in response to either pilocarpine (15 mg/kg) or an octapeptide of cholecystokinin (0.1 microgram/kg) have been found in rats that received daily injections of reserpine (0.5 mg/kg) for 7 days. During a 3-hr secretory period, significant reductions in the ...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-198109000-00015

    authors: McCurdy RE,Martinez R

    更新日期:1981-09-01 00:00:00

  • Pharmacokinetics and local safety profile of propranolol eye drops in rabbits.

    abstract:BACKGROUND:Oral propranolol, a nonselective β-blocker, is able to reduce the progression of retinopathy of prematurity in newborns, but it appeared unsafe. This study aimed to find, in rabbits, a propranolol eye drop concentration able to induce lower plasma but higher retinal concentrations than those obtained after o...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1038/pr.2014.108

    authors: Padrini L,Isacchi B,Bilia AR,Pini A,Lanzi C,Masini E,Della Bona ML,Calvani AM,Ceccantini R,la Marca G,Filippi L

    更新日期:2014-10-01 00:00:00

  • Response of fetal rabbit ductus arteriosus to bradykinin: role of nitric oxide, prostaglandins, and bradykinin receptors.

    abstract::Nitric oxide plays a major role in vascular tone control. Increased blood levels of bradykinin (BK), which stimulates nitric oxide biosynthesis, occur at birth. BK effects on ductus arteriosus (DA) tone were investigated in fetal rabbit under fetal (2.5% O2 "low PO2") and neonatal (30% O2 "high PO2") conditions using ...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-199904010-00017

    authors: Bateson EA,Schulz R,Olley PM

    更新日期:1999-04-01 00:00:00

  • Interleukin (IL)-1 beta in tracheal aspirates from premature infants induces airway epithelial cell IL-8 expression via an NF-kappa B dependent pathway.

    abstract::Tracheal aspirate IL-8 concentration and airway epithelial cell IL-8 expression are each increased in premature infants undergoing mechanical ventilation. We sought to determine the cytokines responsible for IL-8 expression in this context. Tracheal aspirates were collected from 18 mechanically ventilated premature in...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/01.PDR.0000145274.47221.10

    authors: Shimotake TK,Izhar FM,Rumilla K,Li J,Tan A,Page K,Brasier AR,Schreiber MD,Hershenson MB

    更新日期:2004-12-01 00:00:00

  • Role of endogenous atrial natriuretic peptide in chronic anemia in the ovine fetus: effects of a non-peptide antagonist for atrial natriuretic peptide receptor.

    abstract::Chronic fetal anemia causes polyhydramnios and fetal hydrops and is associated with increased fetal diuresis and natriuresis. To determine the role of atrial natriuretic peptide (ANP) in the renal adaptation to chronic fetal anemia we studied the effects of HS-142-1 (HS), a specific inhibitor of the guanylate cyclase-...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-199511000-00015

    authors: Silberbach M,Woods LL,Hohimer AR,Shiota T,Matsuda Y,Davis LE

    更新日期:1995-11-01 00:00:00

  • Nitric oxide in retinal and choroidal blood flow autoregulation in newborn pigs: interactions with prostaglandins.

    abstract::The role of nitric oxide (NO) as well as its interaction with prostaglandins (PG) in setting the limits of autoregulation of retinal blood flow (RBF) and choroidal blood flow (ChBF) were studied in newborn pigs (1-5 d old). Blood flows were measured by the microsphere technique. Low and high ocular perfusion pressures...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-199603000-00017

    authors: Hardy P,Nuyt AM,Abran D,St-Louis J,Varma DR,Chemtob S

    更新日期:1996-03-01 00:00:00

  • Combination of intrauterine growth restriction and a high-fat diet impairs cholesterol elimination in rats.

    abstract:BACKGROUND:Intrauterine growth restriction (IUGR) increases the risk of adult-onset hypercholesterolemia. High-fat diet (HFD) consumption potentiates IUGR-induced increased cholesterol. Cholesterol is converted to bile acids by Cyp7a1 in preparation for excretion. We hypothesized that IUGR rats fed a HFD will have incr...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1038/pr.2014.117

    authors: Zinkhan EK,Chin JR,Zalla JM,Yu B,Numpang B,Yu X,Jiang C,Callaway CW,McKnight RA,Joss-Moore L,Lane RH

    更新日期:2014-11-01 00:00:00

  • A case of transient renal tubular acidosis type 1,4 hybrid RTA: a study of the pathophysiologic characteristics of the acidification defect.

    abstract::The diagnosis of transient renal tubular acidosis was made in a 16 months old boy. Bicarbonate titration studies revealed that the acidification defect consisted of an association of proximal and distal tubular acidosis. The effect of experimentally induced potassium depletion revealed that hyperkalemia contributed to...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-197910000-00020

    authors: Donckerwolcke RA,Valk C,van Wijngaarden-Penterman MJ,van Stekelenburg GJ

    更新日期:1979-10-01 00:00:00

  • Does insulin-like growth factor-1 mediate protein-induced kidney growth in infants? A secondary analysis from a randomized controlled trial.

    abstract:BACKGROUND:Animal models have shown that insulin-like growth factor I (IGF-I) may mediate protein-induced kidney growth. Our aim was to analyze the effect of IGF-I on protein-induced kidney growth in healthy infants. METHODS:This is a secondary analysis of a randomized trial that compared growth of infants fed with a ...

    journal_title:Pediatric research

    pub_type: 杂志文章,随机对照试验

    doi:10.1038/pr.2013.87

    authors: Luque V,Escribano J,Grote V,Ferre N,Koletzko B,Gruszfeld D,Socha P,Langhendries JP,Goyens P,Closa-Monasterolo R,European Childhood Obesity Project.

    更新日期:2013-08-01 00:00:00

  • Tin-protoporphyrin-mediated disruption in vivo of heme oxygenase-2 protein integrity and activity in rat brain.

    abstract::The ability of synthetic metalloporphyrins to suppress heme oxygenase activity and bilirubin formation has recently become of considerable clinical and experimental interest for suppression of jaundice in humans, including neonatal hyperbilirubinemia. The present investigation compares the biochemical effects of Sn- a...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-199209000-00016

    authors: Mark JA,Maines MD

    更新日期:1992-09-01 00:00:00

  • Flow cytometry for near-patient testing in premature neonates reveals variation in platelet function: a novel approach to guide platelet transfusion.

    abstract:BACKGROUND:Neonatal haemorrhaging is often co-observed with thrombocytopenia; however, no evidence of a causal relationship with low platelet count has been reported. Regardless, the administration of a platelet transfusion is often based upon this parameter. Accurate measurement of platelet function in small volumes o...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1038/s41390-019-0316-9

    authors: Waller AK,Lantos L,Sammut A,Salgin B,McKinney H,Foster HR,Kriek N,Gibbins JM,Stanworth SJ,Garner SF,Venkatesh V,Curley A,Belteki G,Ghevaert C

    更新日期:2019-05-01 00:00:00

  • Congenital hypoaldosteronism: the Visser-Cost syndrome revisited.

    abstract::In 1964, H. K. A. Visser and W. S. Cost were the first to suggest a defect of the terminal aldosterone (Aldo) biosynthesis in patients with hypoaldosteronism. In the last years, the molecular basis of the terminal Aldo biosynthesis has been elucidated. Aldo biosynthesis requires 11beta-hydroxylation of 11-deoxycortico...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-199603000-00027

    authors: Peter M,Sippell WG

    更新日期:1996-03-01 00:00:00

  • Pediatric brain repair from endogenous neural stem cells of the subventricular zone.

    abstract::There is great interest in the regenerative potential of the neural stem cells and progenitors that populate the germinal zones of the immature brain. Studies using animal models of pediatric brain injuries have provided a clearer understanding of the responses of these progenitors to injury. In this review, we have c...

    journal_title:Pediatric research

    pub_type: 杂志文章,评审

    doi:10.1038/pr.2017.261

    authors: Niimi Y,Levison SW

    更新日期:2018-01-01 00:00:00

  • Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.

    abstract::Medium chain acyl-CoA dehydrogenase deficiency (MCAD) is a defect in the mitochondrial oxidation of fatty acids. The disorder typically presents with episodes of vomiting and hypoglycemia, sometimes with changes in mental status and hepatic failure. These Reye's-like features may culminate in coma and death. Stress, i...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-199505000-00021

    authors: Ziadeh R,Hoffman EP,Finegold DN,Hoop RC,Brackett JC,Strauss AW,Naylor EW

    更新日期:1995-05-01 00:00:00

  • Bilirubin photooxidation products in the urine of jaundiced neonates receiving phototherapy.

    abstract::Bilirubin-IX alpha photooxidation products were detected by high performance liquid chromatography in the urine of neonates undergoing phototherapy for hyperbilirubinemia. The in vivo photoproducts were identified by chromatographic comparison with authentic synthetic standards using two complementary methods. Bilirub...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-198408000-00003

    authors: Lightner DA,Linnane WP 3rd,Ahlfors CE

    更新日期:1984-08-01 00:00:00

  • Reduced pericellular sensitivity to IGF-I in fibroblasts from girls with Turner syndrome: a mechanism to impair clinical responses to GH.

    abstract::Girls with Turner syndrome (TS) are treated with supraphysiological doses of growth hormone (GH) to improve final height; however in some girls, the growth response can be poor. This may reflect aberrations in GH and/or IGF-I actions at the cellular level, and thus this study compared the response of skin fibroblasts ...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e31821b570b

    authors: Westwood M,Tajbakhsh SH,Siddals KW,Whatmore AJ,Clayton PE

    更新日期:2011-07-01 00:00:00

  • Immediate hypothermia reduces cardiac troponin I after hypoxic-ischemic encephalopathy in newborn pigs.

    abstract::Neonatal hypoxic-ischemic encephalopathy (HIE) is a clinically defined neurological condition after lack of oxygen and often associated with cardiac dysfunction in term infants. Therapeutic hypothermia (HT) after birth is neuroprotective in infants with HIE. However, it is not known whether HT is also cardioprotective...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/PDR.0b013e31822941ee

    authors: Liu X,Tooley J,Løberg EM,Suleiman MS,Thoresen M

    更新日期:2011-10-01 00:00:00

  • Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: a new hereditary renal tubular-pituitary syndrome?

    abstract::Gitelman disease was diagnosed in two unrelated children with hypokalemic metabolic alkalosis and growth failure (a boy and a girl aged 7 mo and 9.5 y, respectively, at clinical presentation) on the basis of mutations detected in the gene encoding the thiazide-sensitive NaCl cotransporter of the distal convoluted tubu...

    journal_title:Pediatric research

    pub_type: 杂志文章

    doi:10.1203/00006450-199908000-00017

    authors: Bettinelli A,Rusconi R,Ciarmatori S,Righini V,Zammarchi E,Donati MA,Isimbaldi C,Bevilacqua M,Cesareo L,Tedeschi S,Garavaglia R,Casari G

    更新日期:1999-08-01 00:00:00

  • Cerebral malaria: mechanisms of brain injury and strategies for improved neurocognitive outcome.

    abstract::Cerebral malaria is the most severe neurological complication of infection with Plasmodium falciparum. With >575,000 cases annually, children in sub-Saharan Africa are the most affected. Surviving patients have an increased risk of neurological and cognitive deficits, behavioral difficulties, and epilepsy making cereb...

    journal_title:Pediatric research

    pub_type: 杂志文章,评审

    doi:10.1203/PDR.0b013e3181eee738

    authors: Idro R,Marsh K,John CC,Newton CR

    更新日期:2010-10-01 00:00:00