Ketonic diet in the management of pyruvate dehydrogenase deficiency.

Abstract:

:Two brothers, aged 11 years 6 months and 2 years 3 months, with psychomotor and growth retardation, episodes of weakness, ataxia, ophthalmoplegia, and elevated levels of blood pyruvate were shown to have a deficiency in the pyruvate dehydrogenase complex (PDH). When they ate a diet high enough in fats to cause ketonemia but not acidosis, there was a fall in blood pyruvate levels, a decrease in the frequency and severity of the episodes of neurological deterioration, an increased rate of growth and development in the younger brother, and increased strength and endurance in the older one. The possibility of dietary treatment makes the early diagnosis of PDH deficiency more important. Determination of blood pyruvate and lactate levels following a standard glucose meal (glucose-pyruvate test) appears to be the most reliable screening test for this condition.

journal_name

Pediatrics

journal_title

Pediatrics

authors

Falk RE,Cederbaum SD,Blass JP,Gibson GE,Kark RA,Carrel RE

subject

Has Abstract

pub_date

1976-11-01 00:00:00

pages

713-21

issue

5

eissn

0031-4005

issn

1098-4275

journal_volume

58

pub_type

杂志文章
  • Use of wireless capsule endoscopy in the management of severe Henoch-Schonlein purpura.

    abstract::Henoch-Schonlein purpura is a multisystem vasculitis that primarily affects children. Characteristic symptoms include purpura of the lower extremities and buttocks, abdominal pain, arthralgias, and hematuria. Gastrointestinal bleeding occurs in approximately 50% of children and, although often self-limiting, can be si...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2005-3111

    authors: Preud'Homme DL,Michail S,Hodges C,Milliken T,Mezoff AG

    更新日期:2006-09-01 00:00:00

  • Use of bacterial antigen detection in the diagnosis of pediatric lower respiratory tract infections.

    abstract::Two immunochemical methods were used to identify Haemophilus influenzae and Streptococcus pneumoniae capsular antigens in the urine and serum of 162 children with acute lower respiratory tract infection. These methods were compared with standard bacterial blood culture. Viral and mycoplasma cultures of respiratory sec...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Ramsey BW,Marcuse EK,Foy HM,Cooney MK,Allan I,Brewer D,Smith AL

    更新日期:1986-07-01 00:00:00

  • Functional gastrointestinal disorders in children: an Italian prospective survey.

    abstract:OBJECTIVES:To assess the prevalence and natural history of functional gastrointestinal disorders (FGIDs) in children using the Rome Criteria. METHODS:Thirteen primary care pediatricians were randomly selected from the Campania region of the Italian National Health Service. Each pediatrician completed a detailed FGID q...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.114.1.73

    authors: Miele E,Simeone D,Marino A,Greco L,Auricchio R,Novek SJ,Staiano A

    更新日期:2004-07-01 00:00:00

  • A single dose of Sn-mesoporphyrin prevents development of severe hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient newborns.

    abstract:OBJECTIVES:Severe neonatal jaundice is a common clinical manifestation of glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and the most difficult to manage; kernicterus is not an uncommon outcome. We assessed in healthy, direct Coombs test-negative Greek newborns of >/=38 weeks' gestational age 1) the current burd...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.108.1.25

    authors: Kappas A,Drummond GS,Valaes T

    更新日期:2001-07-01 00:00:00

  • Food protein-induced enterocolitis syndrome caused by solid food proteins.

    abstract:BACKGROUND:Infantile food protein-induced enterocolitis syndrome (FPIES) is a severe, cell-mediated gastrointestinal food hypersensitivity typically provoked by cow's milk or soy. Solid foods are rarely considered a cause. OBJECTIVE:To describe the clinical characteristics and natural history of FPIES provoked by soli...

    journal_title:Pediatrics

    pub_type: 杂志文章,多中心研究

    doi:10.1542/peds.111.4.829

    authors: Nowak-Wegrzyn A,Sampson HA,Wood RA,Sicherer SH

    更新日期:2003-04-01 00:00:00

  • Rapid loading of critically ill patients with carbamazepine suspension.

    abstract::To determine the rate and factors that affect carbamazepine absorption, six patients being treated in the pediatric intensive care unit for frequent seizures received loading doses (7.4 to 10.4 mg/kg) of carbamazepine suspension by either nasogastric or nasoduodenal tube. Carbamazepine serum concentrations were determ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Miles MV,Lawless ST,Tennison MB,Zaritsky AL,Greenwood RS

    更新日期:1990-08-01 00:00:00

  • The Improving Renal Outcomes Collaborative: Blood Pressure Measurement in Transplant Recipients.

    abstract:BACKGROUND AND OBJECTIVES:Hypertension is highly prevalent in pediatric kidney transplant recipients and contributes to cardiovascular death and graft loss. Improper blood pressure (BP) measurement limits the ability to control hypertension in this population. Here, we report multicenter efforts from the Improving Rena...

    journal_title:Pediatrics

    pub_type: 杂志文章,多中心研究

    doi:10.1542/peds.2019-2833

    authors: Seifert ME,Dahale DS,Kamel M,Winterberg PD,Barletta GM,Belsha CW,Chaudhuri A,Flynn JT,Garro R,George RP,Goebel JW,Kershaw DB,Matossian D,Misurac J,Nailescu C,Nguyen CR,Pearl M,Pollack A,Pruette CS,Singer P,VanSick

    更新日期:2020-07-01 00:00:00

  • Poverty and Trends in Three Common Chronic Disorders.

    abstract:OBJECTIVES:For asthma, attention-deficit/hyperactivity disorder (ADHD), and autism spectrum disorder (ASD), the objectives were to (1) describe the percent increases in prevalence and comorbidity and how these vary by poverty status, and (2) examine the extent to which poverty status is a predictor of higher than avera...

    journal_title:Pediatrics

    pub_type: 杂志文章,收录出版

    doi:10.1542/peds.2016-2539

    authors: Pulcini CD,Zima BT,Kelleher KJ,Houtrow AJ

    更新日期:2017-03-01 00:00:00

  • Evaluation of a clinical dehydration scale in children requiring intravenous rehydration.

    abstract:OBJECTIVES:To evaluate the reliability and validity of a previously derived clinical dehydration scale (CDS) in a cohort of children with gastroenteritis and evidence of dehydration. METHODS:Participants were 226 children older than 3 months who presented to a tertiary care emergency department and required intravenou...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2011-2985

    authors: Kinlin LM,Freedman SB

    更新日期:2012-05-01 00:00:00

  • Early or delayed enteral feeding for preterm growth-restricted infants: a randomized trial.

    abstract:BACKGROUND:Growth-restricted preterm infants are at increased risk of developing necrotizing enterocolitis (NEC) and initiation of enteral feeding is frequently delayed. There is no evidence that this delay is beneficial and it might further compromise nutrition and growth. METHODS:Infants with gestation below 35 week...

    journal_title:Pediatrics

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1542/peds.2011-2379

    authors: Leaf A,Dorling J,Kempley S,McCormick K,Mannix P,Linsell L,Juszczak E,Brocklehurst P,Abnormal Doppler Enteral Prescription Trial Collaborative Group.

    更新日期:2012-05-01 00:00:00

  • Vaccines are not associated with metabolic events in children with urea cycle disorders.

    abstract:BACKGROUND:Despite the success of childhood immunizations in prevention of infectious diseases, questions remain about the safety of vaccines in medically fragile children with inborn errors of metabolism such as urea cycle disorders (UCDs). Patients with UCDs are subject to hyperammonemic episodes (HAEs) after infecti...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2010-1628

    authors: Morgan TM,Schlegel C,Edwards KM,Welch-Burke T,Zhu Y,Sparks R,Summar M,Urea Cycle Disorders Consortium.

    更新日期:2011-05-01 00:00:00

  • The decision to breastfeed in the United States: does race matter?

    abstract:OBJECTIVES:To estimate the effects of maternal and birth characteristics on the decision to breastfeed and to relate breastfeeding practices to racial differences in infant mortality. METHODS:Using a sample of women with young children from the National Survey of Family Growth (NSFG), Cycle V, 1995, the likelihood of ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.108.2.291

    authors: Forste R,Weiss J,Lippincott E

    更新日期:2001-08-01 00:00:00

  • Prediction of death for extremely low birth weight neonates.

    abstract:OBJECTIVE:To compare multiple logistic regression and neural network models in predicting death for extremely low birth weight neonates at 5 time points with cumulative data sets, as follows: scenario A, limited prenatal data; scenario B, scenario A plus additional prenatal data; scenario C, scenario B plus data from t...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2004-2099

    authors: Ambalavanan N,Carlo WA,Bobashev G,Mathias E,Liu B,Poole K,Fanaroff AA,Stoll BJ,Ehrenkranz R,Wright LL,National Institute of Child Health and Human Development Neonatal Research Network.

    更新日期:2005-12-01 00:00:00

  • Alternative vaccination schedule preferences among parents of young children.

    abstract:OBJECTIVE:Increasing numbers of parents use alternative vaccination schedules that differ from the recommended childhood vaccination schedule for their children. We sought to describe national patterns of alternative vaccination schedule use and the potential "malleability" of parents' current vaccination schedule choi...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2011-0400

    authors: Dempsey AF,Schaffer S,Singer D,Butchart A,Davis M,Freed GL

    更新日期:2011-11-01 00:00:00

  • Twenty-year trends in fatal injuries to very young children: the persistence of racial disparities.

    abstract:OBJECTIVE:Mortality trends across modifiable injury mechanisms may reflect how well effective injury prevention efforts are penetrating high-risk populations. This study examined all-cause, unintentional, and intentional injury-related mortality in children who were aged 0 to 4 years for evidence of and to quantify rac...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2006-2412

    authors: Pressley JC,Barlow B,Kendig T,Paneth-Pollak R

    更新日期:2007-04-01 00:00:00

  • Current pediatrician practices in identifying high-risk behaviors of adolescents.

    abstract:OBJECTIVE:In the United States, 15- to 24-year-olds represent approximately 14% of HIV cases diagnosed in 2006 and almost 50% of the 19 million sexually transmitted infections (STIs) reported annually. This survey assessed pediatricians' practices regarding preventive health care screening, provision of reproductive he...

    journal_title:Pediatrics

    pub_type: 杂志文章,随机对照试验

    doi:10.1542/peds.2009-0271

    authors: Henry-Reid LM,O'Connor KG,Klein JD,Cooper E,Flynn P,Futterman DC

    更新日期:2010-04-01 00:00:00

  • Serial immune markers do not correlate with clinical exacerbations in pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections.

    abstract:OBJECTIVE:Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections is hypothesized to be a poststreptococcal autoimmune disorder. If clinical exacerbations are triggered by a streptococcal infection that activates cross-reacting antibodies against neuronal tissue or alters the production...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2007-2658

    authors: Singer HS,Gause C,Morris C,Lopez P,Tourette Syndrome Study Group.

    更新日期:2008-06-01 00:00:00

  • Respiratory syncytial virus immune globulin treatment of RSV lower respiratory tract infection in previously healthy children.

    abstract:OBJECTIVE:To evaluate the efficacy of high titer respiratory syncytial virus (RSV) immune globulin (RSVIG) in the treatment of previously healthy children hospitalized with proven RSV lower tract infection (LRI). METHOD:Infants and young children

    journal_title:Pediatrics

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1542/peds.100.6.937

    authors: Rodriguez WJ,Gruber WC,Groothuis JR,Simoes EA,Rosas AJ,Lepow M,Kramer A,Hemming V

    更新日期:1997-12-01 00:00:00

  • Toe tourniquet syndrome in association with maternal hair loss.

    abstract::Increased hair loss a few months after delivering an infant is a common postpartum condition known as telogen effluvium. A much less common condition involving young infants is the hair-thread tourniquet syndrome, or toe tourniquet syndrome, which involves hair or thread becoming so tightly wrapped around an appendage...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.111.3.685

    authors: Strahlman RS

    更新日期:2003-03-01 00:00:00

  • Semipermeable polyurethane membrane as an artificial skin for the premature neonate.

    abstract::A thin and semipermeable polyurethane membrane adherently applied to premature neonates as an artificial skin was investigated as an atraumatic surface barrier sufficient to reduce transepidermal water loss without inhibiting natural infant skin development during the first few days of life. A sample group of 18 neona...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Knauth A,Gordin M,McNelis W,Baumgart S

    更新日期:1989-06-01 00:00:00

  • The discrepancy between maturation of visual-evoked potentials and cognitive outcome at five years in very preterm infants with and without hemodynamic signs of fetal brain-sparing.

    abstract:OBJECTIVE:After intrauterine growth restriction we found at the age of 6 months an acceleration of neurophysiologic maturation. However, at later ages impaired cognitive outcome has been reported. Therefore, we investigated in children with and without fetal hemodynamic adaptation to intrauterine growth restriction whe...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.105.2.385

    authors: Scherjon S,Briët J,Oosting H,Kok J

    更新日期:2000-02-01 00:00:00

  • American Academy of Pediatrics: Committee on Genetics. Prenatal diagnosis for pediatricians.

    abstract::Pediatricians should be familiar with the principles of antenatal diagnosis and how they should be applied to specific problems in genetic counseling, diagnosis, and management in clinical practice. At the same time, pediatricians should be familiar with the resources for the new technology available to them in their ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors:

    更新日期:1980-06-01 00:00:00

  • Diagnosis Codes and Case Definitions for Neonatal Abstinence Syndrome.

    abstract:BACKGROUND AND OBJECTIVES:The increase in neonatal abstinence syndrome (NAS) has underscored the need for NAS surveillance programs, but many rely on passive surveillance using unverified diagnosis codes. Few studies have evaluated the validity of these codes, and no study has assessed the recently proposed Council of ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2020-0567

    authors: Elmore AL,Tanner JP,Lowry J,Lake-Burger H,Kirby RS,Hudak ML,Sappenfield WM,Salemi JL

    更新日期:2020-09-01 00:00:00

  • A treatable metabolic cause of encephalopathy: cobalamin C deficiency in an 8-year-old male.

    abstract::Neurologic regression in a previously healthy child may be caused by metabolic or neurodegenerative disorders, many of which have no definitive treatment. We report a case of a previously healthy 8-year-old boy who presented with a month-long history of waxing and waning encephalopathy and acute regression, followed b...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2013-1427

    authors: Krueger JM,Piantino J,Smith CM,Angle B,Venkatesan C,Wainwright MS

    更新日期:2015-01-01 00:00:00

  • Effectiveness of nebulized beclomethasone in preventing viral wheezing: an RCT.

    abstract:OBJECTIVE:The goal of this study was to evaluate the effectiveness of nebulized beclomethasone in preventing the recurrence of viral wheezing. METHODS:The study was designed as a randomized, double-blind, placebo-controlled trial. Outpatient children aged 1 to 5 years with at least 1 episode of viral wheezing in the l...

    journal_title:Pediatrics

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1542/peds.2013-2404

    authors: Clavenna A,Sequi M,Cartabia M,Fortinguerra F,Borghi M,Bonati M,ENBe Study Group.

    更新日期:2014-03-01 00:00:00

  • Unclear speech: recognition and significance of unintelligible speech in preschool children.

    abstract::Clarity of speech normally improves throughout the first few years of life, with acquisition of complete intelligibility by 4 years of age. Delayed emergence of intelligibility, or frankly unintelligible speech, often signify the presence of a major disturbance of language, overall cognitive development, or hearing. N...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Coplan J,Gleason JR

    更新日期:1988-09-01 00:00:00

  • b-CAPSA I Haemophilus influenzae, type b, capsular polysaccharide vaccine safety.

    abstract::The b-CAPSA I capsular polysaccharide vaccine for Haemophilus influenzae type b was given to 87,541 children 2 through 5 years of age in the Kaiser Permanente Medical Care Program, and the children were then followed using a multiple modality surveillance. Phase 1 consisted of 24-hour recall of immediate side effects ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Black SB,Shinefield HR

    更新日期:1987-03-01 00:00:00

  • Eosinophilic Pneumonia and Lymphadenopathy Associated With Vaping and Tetrahydrocannabinol Use.

    abstract::Idiopathic acute eosinophilic pneumonia is a rare and potentially life-threatening condition that is defined by bilateral pulmonary infiltrates and fever in the presence of pulmonary eosinophilia. It often presents acutely in previously healthy individuals and can be difficult to distinguish from infectious pneumonia....

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2019-3007

    authors: Mull ES,Erdem G,Nicol K,Adler B,Shell R

    更新日期:2020-04-01 00:00:00

  • Pediatric lead exposure from imported Indian spices and cultural powders.

    abstract:BACKGROUND:Significant lead poisoning has been associated with imported nonpaint products. OBJECTIVES:To describe cases of pediatric lead intoxication from imported Indian spices and cultural powders, determine lead concentrations in these products, and predict effects of ingestion on pediatric blood lead levels (BLLs...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2009-1396

    authors: Lin CG,Schaider LA,Brabander DJ,Woolf AD

    更新日期:2010-04-01 00:00:00

  • Poverty and chronic illness in early childhood: a comparison between the United kingdom and Quebec.

    abstract:OBJECTIVES:Our goal was to examine the association between poverty, in the first and fourth years of life and cumulatively in the first and fourth years of life, and the health of children in the fourth year of life in the UK Millennium Cohort Study and in the Quebec Longitudinal Study of Child Development (QLSCD). ME...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2009-0701

    authors: Nikiéma B,Spencer N,Séguin L

    更新日期:2010-03-01 00:00:00