Odd-numbered long-chain fatty acids in propionic acidaemia.

Abstract:

UNLABELLED:In patients with propionic acidaemia (PA), the increased intracellular concentration of propionyl-CoA leads to a relative abundance of odd-numbered long-chain fatty acids (OLCFAs) in body lipids. We investigated the relative amount of OLCFA in erythrocyte membrane lipids over a period of 1-8 years in five patients with early onset PA and present their clinical outcome. After extraction from erythrocyte membrane lipids and esterification, fatty acids were analysed by capillary column gas chromatography. The sum of the OLCFA 15- and 17- carbon saturated and 17-carbon monounsaturated fatty acids (C15:0, C17:0, C17:1) was calculated and expressed as a percentage of the total C14-C22 fatty acids in the sample. Three patients (pccBC-complementation group) presented with a stable clinical course and showed OLCFA values usually below 1.9% (median % +/- SD: 1.4+/-0.5, 1.6+/-0.5, 1.8+/-0.5). Two patients (pccA-complementation group) had a more severe course of the disease and showed higher medians and a broader range of OLCFA levels (2.2+/-1.2 and 2.2+/-0.8). CONCLUSION:Our study shows that odd-numbered long-chain fatty acid concentrations are increased in patients with propionic acidaemia and are higher in those with a more severe clinical course. The value of odd-numbered long-chain fatty acids in the assessment of the phenotypic severity and in the management of propionic acidaemia remains to be proven in a prospective long-term study with more patients of differing phenotype.

journal_name

Eur J Pediatr

authors

Sperl W,Murr C,Skladal D,Sass JO,Suormala T,Baumgartner R,Wendel U

doi

10.1007/s004310050010

keywords:

subject

Has Abstract

pub_date

2000-01-01 00:00:00

pages

54-8

issue

1-2

eissn

0340-6199

issn

1432-1076

journal_volume

159

pub_type

杂志文章
  • Overweight and obesity in European children and adolescents.

    abstract::The conclusions of this mini-workshop are not substantially different from those previously published based on the USA experience [9]. This does not necessarily mean that there are no important differences between Europe and the USA, rather it reflects the paucity of data, especially in Europe. Moreover, European data...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/pl00014362

    authors: Jebb SA,Lambert J

    更新日期:2000-09-01 00:00:00

  • Henoch-Schonlein purpura presenting duodenal involvement similar to superior mesenteric artery syndrome in a girl.

    abstract::Henoch-Schonlein purpura (HSP) is an inflammatory vasculitis involving the skin, joints, gastrointestinal (GI) tract, and kidneys. This is the first case report describing a 5-year-old girl with HSP presenting duodenal involvement which might be associated with superior mesenteric artery syndrome (SMAS). ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-006-0254-5

    authors: Harada T,Machida H,Ito S,Aihara Y,Yokota S

    更新日期:2007-05-01 00:00:00

  • Serotype distribution and antimicrobial susceptibility of Streptococcus pneumoniae causing invasive infections and acute otitis media in children.

    abstract:UNLABELLED:A prospective study was conducted to determine the serotypes and antibiotic resistance patterns of pneumococcal isolates from children with invasive pneumococcal disease (IPD) and acute otitis media (AOM). From October 2001 to May 2002, 65 children with IPD (28 bacteraemic pneumonia, 24 bacteraemia without f...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-004-1447-4

    authors: Zissis NP,Syriopoulou V,Kafetzis D,Daikos GL,Tsilimingaki A,Galanakis E,Tsangaropoulou I

    更新日期:2004-07-01 00:00:00

  • A new method for screening for hyperammonemia.

    abstract::A new method for the detection of hyperammonemia, using a kit based on the principle of microdiffusion of ammonia, is described. The method requires only one drop of blood and takes only 15 min to complete. Experiments for recovery and reproducibility were satisfactory, and good correlation was obtained when compared ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF00442347

    authors: Tada K,Okuda K,Watanabe K,Iimura Y,Yamada S

    更新日期:1979-02-08 00:00:00

  • Factors associated with proceeding to surgical intervention and recurrence of primary spontaneous pneumothorax in adolescent patients.

    abstract:UNLABELLED:Primary spontaneous pneumothorax (PSP) is not uncommon, and its recurrence is often a challenging clinical problem. Surgical management and predisposing factors for the recurrence of PSP, however, have not yet been well elucidated in adolescent patients. The major aim of this study was to investigate factors...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-014-2352-0

    authors: Chiu CY,Chen TP,Wang CJ,Tsai MH,Wong KS

    更新日期:2014-11-01 00:00:00

  • The incidence of childhood inflammatory bowel disease in Wales.

    abstract:UNLABELLED:A prospective study was undertaken throughout Wales over the period from 1 January 1995 to 30 March 1997, to determine the incidence of childhood inflammatory bowel disease (IBD). Thirty-eight (24 male) new cases of IBD were reported. Twenty (16 male) of the reported cases had Crohn's disease, 11 (5 male) ha...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s004310050066

    authors: Hassan K,Cowan FJ,Jenkins HR

    更新日期:2000-04-01 00:00:00

  • Early onset sepsis calculator implementation is associated with reduced healthcare utilization and financial costs in late preterm and term newborns.

    abstract::The neonatal early onset sepsis (EOS) calculator is a novel tool for antibiotic stewardship in newborns, associated with a reduction of empiric antibiotic treatment for suspected EOS. We studied if implementation of the EOS calculator results in less healthcare utilization and lower financial costs of suspected EOS. F...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-019-03510-9

    authors: Achten NB,Visser DH,Tromp E,Groot W,van Goudoever JB,Plötz FB

    更新日期:2020-05-01 00:00:00

  • Adrenal crises in children with adrenal insufficiency: epidemiology and risk factors.

    abstract::The aim of the study was to assess the epidemiology and risk factors of adrenal crises (AC) in children with adrenal insufficiency (AI). Children diagnosed with AI between 1990 and 2017 at four Israeli pediatric endocrinology units were studied. Demographic and clinical data were retrieved retrospectively from their f...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-019-03348-1

    authors: Eyal O,Levin Y,Oren A,Zung A,Rachmiel M,Landau Z,Schachter-Davidov A,Segev-Becker A,Weintrob N

    更新日期:2019-05-01 00:00:00

  • Oral zinc sulphate as primary therapeutic intervention in a child with Wilson disease.

    abstract::An 8-year-old boy with an hepatic form of Wilson disease was treated with oral zinc sulphate as the primary and sole therapy. After 4 months, liver function had dramatically improved, and the parameters characterizing copper metabolism had also normalized. ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF00441526

    authors: Milanino R,Marrella M,Moretti U,Velo GP,Deganello A,Ribezzo G,Tatò L

    更新日期:1989-06-01 00:00:00

  • Human leucocyte class I and II antigens in coeliac disease: a study in an Austrian paediatric population.

    abstract::Regional variations in the human leucocyte antigen (HLA) distribution patterns of coeliac disease (CD) have been reported. This study focuses on phenotype frequencies of a cohort of Austrian paediatric CD patients in comparison with those recorded in the literature. HLA class I and II typing was performed in 136 CD pa...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF01958759

    authors: Winklhofer-Roob BM,Rossipal E,Lanzer G

    更新日期:1991-08-01 00:00:00

  • Elastase alpha 1 proteinase inhibitor complex, granulocyte count, ratio of immature to total granulocyte count, and C-reactive protein in neonatal septicaemia.

    abstract::In a prospective study elastase alpha 1-proteinase inhibitor (E alpha 1PI), polymorphonuclear (PMN) count, the immature to total neutrophil count ratio (I/T ratio), and C-reactive protein (CRP) were analysed in 74 patients (76 cases) with neonatal septicaemia at the time of initial clinical symptoms. At that early sta...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02113257

    authors: Tegtmeyer FK,Horn C,Richter A,van Wees J

    更新日期:1992-05-01 00:00:00

  • The effect of vitamin K supplementation on biochemical markers of bone formation in children and adolescents with cystic fibrosis.

    abstract:INTRODUCTION:Impaired vitamin K status in cystic fibrosis (CF) has been considered as a newly emerged pathogenetic factor for reduced bone mineral density (BMD). OBJECTIVES:Our aim was to evaluate the effectiveness of vitamin K supplementation in managing bone formation abnormalities in children and adolescents with C...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-006-0132-1

    authors: Nicolaidou P,Stavrinadis I,Loukou I,Papadopoulou A,Georgouli H,Douros K,Priftis KN,Gourgiotis D,Matsinos YG,Doudounakis S

    更新日期:2006-08-01 00:00:00

  • Factor VIII activity and factor VIII related antigen in newborns.

    abstract::Factor VIII procoagulant activity and factor VIII related antigen were examined in 20 full-term and preterm newborn infants during the first days of life. The control group involved 15 adults volunteers. Factor VIII activity was estimated by a one-stage test and factor VIII related antigen was determined by immunelect...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF00445613

    authors: Maak B,Scheidt B,Frenzel J

    更新日期:1978-07-19 00:00:00

  • Prospective cohort studies using hydrolysed formulas for allergy prevention in atopy-prone newborns: a systematic review.

    abstract:UNLABELLED:The aim of this study is to give a systematic overview on publications having investigated the allergy preventive effect of extensively and/or partially hydrolysed infant formulas. Publications were searched by several strategies. Inclusion criteria were: prospective cohort study, randomisation, family histo...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/pl00008442

    authors: Schoetzau A,Gehring U,Wichmann HE

    更新日期:2001-06-01 00:00:00

  • Tumour genesis syndrome: severe hypophosphatemia and hypokalemia may be ominous presenting findings in childhood acute myeloid leukaemia.

    abstract::We report a 16-year-old girl who was diagnosed with acute leukaemia and a marked leucocytosis >200 × 109/L. She presented with marked hypophosphatemia, hypokalemia, acute renal failure and acute respiratory failure. These electrolytes disturbances may indicate rapid tumour genesis. These ominous findings required urge...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-017-2899-7

    authors: Chan WK,Chang KO,Lau WH

    更新日期:2017-08-01 00:00:00

  • Copper and liver disease.

    abstract::There has been some limited progress in the understanding of the basic defect in Wilson disease and the gene concerned has been located to the chromosome region 13q14. Treatment with zinc has emerged as a definite alternative to penicillamine administration and some shortcomings and/or hazards of both forms of therapy...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/BF01963553

    authors: Danks DM

    更新日期:1991-01-01 00:00:00

  • Combined therapy with LHRH and HCG in cryptorchid infants.

    abstract::In 238 boys with cryptorchidism, between the ages of 4 and 48 months, luteinizing hormone releasing hormone (LHRH) was administered as nasal spray 1.2 mg/day for 4 weeks. The nonresponders received human chorionic gonadotropin (HCG) 500 I.U. i.m. three times a week for 3 weeks. With the combined treatment 37.8% of tes...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02125433

    authors: Lala R,Matarazzo P,Chiabotto P,de Sanctis C,Canavese F,Hadziselimovic F

    更新日期:1993-01-01 00:00:00

  • Parameters affecting length of stay in a pediatric emergency department: a retrospective observational study.

    abstract::Prolonged emergency department (ED) length of stay (LOS) is used as a proxy for ED overcrowding and is associated with adverse outcomes of patients requiring therapy and reduced patient satisfaction. Our aim was to identify and quantify variables which affect ED-LOS. Patients admitted to the pediatric ED of a large re...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-017-2879-y

    authors: Hofer KD,Saurenmann RK

    更新日期:2017-05-01 00:00:00

  • Adolescents with congenital heart disease: their opinions about the preparation for transfer to adult care.

    abstract::The aim of the study was to explore what adolescents with congenital heart disease (CHD) view as important in the preparation for the transfer to adult care. We performed interviews in four focus groups with adolescents (14-18 years old) at four university hospitals in Sweden. Data was analysed using qualitative conte...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-017-2917-9

    authors: Burström Å,Bratt EL,Frenckner B,Nisell M,Hanséus K,Rydberg A,Öjmyr-Joelsson M

    更新日期:2017-07-01 00:00:00

  • Aplastic anaemia complicating adenovirus infection in DiGeorge syndrome.

    abstract::An 18-month-old child with partial DiGeorge syndrome developed aplastic anaemia during an acute adenovirus infection. Assessment of the child's immune system revealed T-cell subset abnormalities consistent with DiGeorge syndrome. A possible link between the underlying immune deficiency and the observed complication is...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF00442482

    authors: Tuvia J,Weisselberg B,Shif I,Keren G

    更新日期:1988-08-01 00:00:00

  • Central precocious puberty and growth hormone deficiency in a boy with Prader-Willi syndrome.

    abstract::In Prader-Willi syndrome (PWS) hypothalamic dysfunction is the cause of hormonal disturbances, such as growth hormone deficiency (GHD), hypogonadism, and delayed or incomplete puberty. Only a few cases of central precocious puberty (CPP) have been reported. We describe an 8.8-year-old PWS boy, with microdeletion of ch...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-008-0679-0

    authors: Crinò A,Di Giorgio G,Schiaffini R,Fierabracci A,Spera S,Maggioni A,Gattinara GC

    更新日期:2008-12-01 00:00:00

  • Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria.

    abstract::Phenylketonuria's (PKU) treatment based on low-protein diet may affect other metabolic pathways, such as that of asymmetric dimethylarginine (ADMA). The aim of this study was to evaluate the reliability of ADMA as a biomarker of adequate metabolic control and possible nutritional risk in a long-term PKU patient popula...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,多中心研究

    doi:10.1007/s00431-019-03365-0

    authors: Andrade F,Villate O,Couce ML,Bueno MA,Alcalde C,de Las Heras J,Ceberio L,Núñez-Marcos S,Nambo PS,Aldámiz-Echevarría L

    更新日期:2019-06-01 00:00:00

  • Acute extrapyramidal syndrome in mild ornithine transcarbamylase deficiency: metabolic stroke involving the caudate and putamen without metabolic decompensation.

    abstract:UNLABELLED:A 6-year-old male with partial ornithine transcarbamylase (OTC) deficiency had acute and rapidly progressive symmetrical swelling of the head of the caudate nuclei and putamina. Clinical presentation was ataxia and dysarthria progressing to seizures and coma; these symptoms gradually resolved with supportive...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-002-1135-1

    authors: Keegan CE,Martin DM,Quint DJ,Gorski JL

    更新日期:2003-04-01 00:00:00

  • A 4-month-old boy with acrodermatitis enteropathica-like symptoms.

    abstract::A 4-month-old boy was admitted for having diffuse eruption in the perianal region, legs, trunk hands, and face with failure to thrive, edema, hypoalbuminemia, and anemia. The patient was thought to have acrodermatitis enteropathica-like eruption due to malabsorption. The eruption completely resolved with enzyme supple...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-008-0825-8

    authors: Pekcan S,Kose M,Dogru D,Sekerel B,Atakan N,Ozcelik U,Cobanoglu N,Yalcin E,Kiper N

    更新日期:2009-01-01 00:00:00

  • Bone marrow hypoplasia in anorexia nervosa.

    abstract::Within a 2-year period, from March 1974 until May 1976 10 patients with anorexia nervosa were seen at the children's university hospitals of München (2 patients) and Giessen (8 patients). The patients were 10-16 years old, with one exception all girls, and had the typical cachexia, hypothermia, bradycardia, gray, hair...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF00452416

    authors: Lampert F,Lau B

    更新日期:1976-12-09 00:00:00

  • Priapism and Fabry disease: a case report.

    abstract::A 10-year-old boy presented with priapism of 10 h duration which after unsuccessful conservative measures, was relieved by a saphenocorporeal shunt. A 4-year history of intermittent vague aching of fingers and toes accompanied by low-grade fever was reported. Fabry disease was confirmed by the lack alpha-galactosidase...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF01959404

    authors: García-Consuegra J,Padrón M,Jaureguizar E,Carrascosa C,Ramos J

    更新日期:1990-04-01 00:00:00

  • Paraneoplastic manifestations in children.

    abstract::Paraneoplastic manifestations are signs and symptoms observed in patients with cancer, distant from the tumour or its metastases and not caused by invasion, obstruction or bulk mass. In children with cancer, paraneoplastic manifestations are rare and distinct from those observed in adults. Knowledge about paraneoplast...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/BF01972883

    authors: de Graaf JH,Tamminga RY,Kamps WA

    更新日期:1994-11-01 00:00:00

  • Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes.

    abstract::We describe the natural history of the RTSII phenotype in a 7-year-old boy who developed intrauterine and postnatal growth retardation, failure to thrive and persisting diarrhoea. The growth hormone stimulation test identified an isolated growth hormone deficiency. Since infancy, the patient manifested skin lesions ch...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-007-0447-6

    authors: Sznajer Y,Siitonen HA,Roversi G,Dangoisse C,Scaillon M,Ziereisen F,Tenoutasse S,Kestilä M,Larizza L

    更新日期:2008-02-01 00:00:00

  • Use of social networking sites by parents of very low birth weight infants: experiences and the potential of a dedicated site.

    abstract:UNLABELLED:The objective of this study was to study the experiences of parents of preterm infants who use social networking sites and the potential of such sites for gathering information and facilitating personal exchange. An anonymous self-reporting questionnaire was administered to parents of infants below 1,500 g b...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-013-2067-7

    authors: Gabbert TI,Metze B,Bührer C,Garten L

    更新日期:2013-12-01 00:00:00

  • Benign paroxysmal vertigo of childhood: a migraine equivalent.

    abstract::Eight patients with the syndrome of benign paroxysmal vertigo of childhood are presented. This symptom complex is characterized by attacks of vertigo in young children combined with nystagmus, ataxia and transiently decreased vestibular function, but without impaired consciousness. Diagnostic and follow-up studies rev...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF01846035

    authors: Koehler B

    更新日期:1980-08-01 00:00:00