Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: update on methods to reduce false tests.

Abstract:

:We report on our 6-year experience of expanded newborn screening by tandem mass spectrometry in Tuscany (Italy), the first Italian Region to screen all newborns for more than 40 inborn errors of metabolism: organization, diseases observed and updates on methods to reduce false-positive and false-negative tests are described. Blood collection is recommended between 48 and 72 h of life. Blood spots are sent daily by courier to laboratory. When a positive result occurs, two subsequent procedures are followed: for disorders with possible acute metabolic decompensation, the baby is immediately recalled and clinical examinations and confirmatory tests are performed; for the other disorders, the nursery provides for a second blood spot. If the test is positive, clinical examinations and confirmatory tests are performed. In both cases, if confirmatory tests are positive, a treatment and a follow-up programme are started. Up to now, spots from 160 000 infants have been analysed and 80 affected patients have been identified (disorders of amino acids, organic acids and fatty acids metabolism). We describe adjustments to cut-off values, the introduction of a second-tier test for propionic acidaemia and for methylmalonic aciduria, the inclusion of succinylacetone in the panel of metabolites, and protocols for premature infants and for newborns on parenteral nutrition or transfused. These changes resulted in a reduction in recalls from 1.37% to 0.32% and consequently of working time and parental stress. Avoiding false-negatives by using more specific markers and minimizing the false-positive rate with second-tier testing is important for a successful newborn screening programme.

journal_name

J Inherit Metab Dis

authors

la Marca G,Malvagia S,Casetta B,Pasquini E,Donati MA,Zammarchi E

doi

10.1007/s10545-008-0965-z

subject

Has Abstract

pub_date

2008-12-01 00:00:00

pages

S395-404

eissn

0141-8955

issn

1573-2665

journal_volume

31 Suppl 2

pub_type

杂志文章
  • Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS).

    abstract:BACKGROUND:A number of studies have already investigated the prevalence of Fabry disease (FD) in adult patients with unexplained left ventricular hypertrophy (LVH) with rates varying from 0 % up to 12 % reflecting referral and gender bias as well as differences in diagnostic methodology. We aimed to perform a prospecti...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-013-9659-2

    authors: Palecek T,Honzikova J,Poupetova H,Vlaskova H,Kuchynka P,Golan L,Magage S,Linhart A

    更新日期:2014-05-01 00:00:00

  • Elevation of lung surfactant phosphatidylcholine in mouse models of Sandhoff and of Niemann-Pick A disease.

    abstract::Sandhoff disease is caused by the defective activity of the lysosomal enzyme beta-hexosaminidase, resulting in accumulation of the glycolipids, GA2 and GM2. Niemann-Pick A/B disease is caused by the defective activity of lysosomal acid sphingomyelinase resulting in sphingomyelin accumulation. Pulmonary complications h...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1023/b:boli.0000042958.22066.6c

    authors: Buccoliero R,Ginzburg L,Futerman AH

    更新日期:2004-01-01 00:00:00

  • Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria.

    abstract::We have identified a common novel mutation (Q354X) in the argininosuccinate lyase (ASL) gene in Saudi patients with argininosuccinic aciduria (ASAuria; McKusick 207900). The two index patients were siblings, had a neonatal onset of the disease and were diagnosed based on the clinical presentation and confirmed by anal...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-005-0081-2

    authors: Al-Sayed M,Alahmed S,Alsmadi O,Khalil H,Rashed MS,Imtiaz F,Meyer BF

    更新日期:2005-01-01 00:00:00

  • Alpha- and beta-mannosidoses.

    abstract::Clinical, pathological and biochemical findings in the mannosidoses are described. Family studies showed granulocyte-rich white cell fractions to be the tissue of choice for carrier detection in beta-mannosidosis. Metabolic labelling studies using [3H] mannose demonstrated accumulation of Man beta 1-4GlcNAc in culture...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/BF01799511

    authors: Cooper A,Hatton CE,Thornley M,Sardharwalla IB

    更新日期:1990-01-01 00:00:00

  • The longest-surviving patient with classical maple syrup urine disease.

    abstract::The clinical problems, dietary management and biochemical monitoring over a 40-year period of the longest-surviving patient with maple syrup urine disease are described. Her case illustrates that a good outcome can be obtained with early diagnosis and institution of a diet restricted in branched-chain amino acids. Cha...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-006-0204-4

    authors: le Roux C,Murphy E,Lilburn M,Lee PJ

    更新日期:2006-02-01 00:00:00

  • Use of 4-trifluoromethylumbelliferyl-alpha-L-iduronide as a new substrate for detection of alpha-L-iduronidase deficiency in human tissues and for rapid prenatal diagnosis of Hurler disease.

    abstract::Results are presented of alpha-L-iduronidase assays in the leukocytes of normal individuals, patients with Hurler disease and heterozygous carriers. The assays were carried out using 4-methylumbelliferyl-alpha-L-iduronide and 4-trifluoromethylumbelliferyl-alpha-L-iduronide as substrates. It was shown that 4-trifluorom...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/BF01800585

    authors: Tsvetkova IV,Karpova EA,Voznyi YV,Zolotukhina TV,Biryukov VV,Semyachkina AN

    更新日期:1991-01-01 00:00:00

  • Expanded newborn screening: reducing harm, assessing benefit.

    abstract::Achieving the goals of newborn screening is, as for any screening, a balancing act: getting the maximum benefit from screening while producing the minimum harm. The advent of "expanded" newborn screening, with a large number of disorders detectable using a single test, has also posed problems, not new, but now more ob...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-010-9106-6

    authors: Wilcken B

    更新日期:2010-10-01 00:00:00

  • Extracellular and cerebrospinal fluids.

    abstract::The mechanism of formation of extracellular fluid is first described, followed by an explanation of the relation between osmotic force, reflection coefficient and molecular size. The possible mechanism of brain extracellular fluid formation is then proposed in relation to the restriction offered by the blood-brain bar...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审

    doi:10.1007/BF00711896

    authors: Segal MB

    更新日期:1993-01-01 00:00:00

  • Simple method for detection of mutations causing hereditary fructose intolerance.

    abstract::Aldolase B is critical for sugar metabolism, and a catalytic deficiency due to mutations in its gene may result in hereditary fructose intolerance (HFI) syndrome, with hypoglycaemia and severe abdominal symptoms. This report describes two cases of HFI, which were identified by intravenous fructose tolerance test and a...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1023/a:1022043307569

    authors: Kullberg-Lindh C,Hannoun C,Lindh M

    更新日期:2002-11-01 00:00:00

  • Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry.

    abstract::Hydroxyproline has the same integer molecular weight as leucine and isoleucine and is quantified with these by tandem mass spectrometry. An infant was diagnosed with hyperhydroxyprolinaemia following further evaluation of an elevated "leucine" level in newborn screening by tandem mass spectrometry. ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1023/b:boli.0000045839.08631.9d

    authors: Baykal T,Karaaslan I,Gokcay G,Demir F,Laleli Y,Demirkol M

    更新日期:2004-01-01 00:00:00

  • The influence of sex, gestational age, birth weight, blood transfusion, and timing of the heel prick on the pancreatitis-associated protein concentration in newborn screening for cystic fibrosis.

    abstract:BACKGROUND:Pancreatitis-associated protein (PAP) is currently discussed as a marker in newborn screening (NBS) for cystic fibrosis (CF). However, it is not known if PAP concentrations are influenced by sex, gestational age, birth weight, blood transfusion or time of collection and what this would mean for NBS for CF. ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-012-9498-6

    authors: Vernooij-van Langen AM,Loeber JG,Elvers B,Triepels RH,Roefs J,Gille JJ,Reijntjens S,Dompeling E,Dankert-Roelse JE

    更新日期:2013-01-01 00:00:00

  • Self-rated psychosocial consequences and quality of life in the acute porphyrias.

    abstract::A battery of self-report psychosocial measures was mailed to 116 patients who had been referred for clinical management (clinic attenders) or laboratory diagnosis (non-clinic attenders) to the London Supraregional Assay Service Centre for Porphyria over the past decade and who tested positive for porphyria. Usable rep...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1023/a:1012901607040

    authors: Millward LM,Kelly P,Deacon A,Senior V,Peters TJ

    更新日期:2001-12-01 00:00:00

  • Tyrosine monitoring in children with early and continuously treated phenylketonuria: results of an international practice survey.

    abstract::Investigations into the biochemical markers associated with executive function (EF) impairment in children with early and continuously treated phenylketonuria (ECT-PKU) remain largely phenylalanine-only focused, despite experimental data showing that a high phenylalanine:tyrosine (phe:tyr) ratio is more strongly assoc...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,多中心研究

    doi:10.1007/s10545-010-9211-6

    authors: Sharman R,Sullivan KA,Young RM,McGill JJ

    更新日期:2010-12-01 00:00:00

  • Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).

    abstract::Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a progressive, multisystemic disease caused by a deficiency of iduronate-2-sulfatase. Patients with the severe form of the disease have cognitive impairment and typically die in the second decade of life. Patients with the less severe form do not experience ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-009-1119-7

    authors: Jones SA,Almássy Z,Beck M,Burt K,Clarke JT,Giugliani R,Hendriksz C,Kroepfl T,Lavery L,Lin SP,Malm G,Ramaswami U,Tincheva R,Wraith JE,HOS Investigators.

    更新日期:2009-08-01 00:00:00

  • Transport and storage of metals.

    abstract::Current understanding of the means by which the trace metals copper, iron, and zinc are transported and stored in the human body is reviewed. Although metal-related inherited metabolic diseases manifest themselves as deficiencies in metalloenzymes, these deficiencies in fact arise from disturbances in the absorption/r...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/BF01811317

    authors: Laurie SH

    更新日期:1983-01-01 00:00:00

  • Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid.

    abstract::Employing lymphoblasts derived from two non related patients with L-2-HG aciduria, we examined the origin of L-2-hydroxyglutaric acid (L-2-HG) through incubation with [(13)C6]glucose and [(2)H5]glutamic acid. Formation of labelled 2-ketoglutaric acid (2-KG), citric acid and L-2-HG was determined by GC-MS. The quantita...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-007-0697-5

    authors: Struys EA,Gibson KM,Jakobs C

    更新日期:2007-10-01 00:00:00

  • Clinical evaluation of a portable lactate meter in type I glycogen storage disease.

    abstract::High lactate concentrations occur in type I glycogen storage disease (GSD) whenever glycogenolysis occurs. Not only does hyperlactataemia cause acute clinical deterioration, but chronic lactate elevations have also been associated with many of the long-term complications in GSD. A portable finger-stick blood lactate m...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-005-0090-1

    authors: Saunders AC,Feldman HA,Correia CE,Weinstein DA

    更新日期:2005-01-01 00:00:00

  • Features of carnitine palmitoyltransferase type I deficiency.

    abstract::Carnitine palmitoyltransferase type I (CPT I) is unique among long-chain fatty acid oxidation enzymes in that there are two tissue-specific isoforms, 'hepatic' and 'muscle', which are encoded by two separate genes. The 'hepatic' isoform is expressed in liver, kidney and fibroblasts and at low levels in the heart, whil...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1023/a:1005694320063

    authors: Olpin SE,Allen J,Bonham JR,Clark S,Clayton PT,Calvin J,Downing M,Ives K,Jones S,Manning NJ,Pollitt RJ,Standing SJ,Tanner MS

    更新日期:2001-02-01 00:00:00

  • Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases?

    abstract::Understanding the relationship between genotype and clinical phenotype will clearly aid in the prognosis, treatment and counselling of patients with lysosomal storage diseases (LSDs). This, however, will require the establishment of widely accepted indices with which to score the severity of LSDs, as these diseases ar...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审

    doi:10.1023/a:1012419823739

    authors: Maire I

    更新日期:2001-01-01 00:00:00

  • Quantitative analysis of disaccharides in the urine of beta-mannosidosis patients.

    abstract::Until recently, there have not been any confirmed reports of beta-mannosidase deficiency in man. We have now analysed urine from two patients with confirmed beta-mannosidase deficiency and have found Man-beta(1-4)GlcNAc concentrations of 65 and 73 mg/mmol creatinine. These levels are at least 12 times higher than thos...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/BF01799685

    authors: Tjoa S,Wenger DA,Fennessey PV

    更新日期:1990-01-01 00:00:00

  • Detoxification pathways in the liver.

    abstract::The liver plays an important rôle in protecting the organism from potentially toxic chemical insults through its capacity to convert lipophiles into more water-soluble metabolites which can be efficiently eliminated from the body via the urine. This protective ability of the liver stems from the expression of a wide v...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审

    doi:10.1007/BF01797915

    authors: Grant DM

    更新日期:1991-01-01 00:00:00

  • Continuous glucose monitoring in children with glycogen storage disease type I.

    abstract::Glycogen storage disease type I (GSD I) is characterized by impaired production of glucose from glycogenolysis and gluconeogenesis resulting in severe fasting hypoglycaemia. The aim of the present study was to examine the efficacy of a continuous subcutaneous glucose monitoring system (CGMS MiniMed), to determine the ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 临床试验,杂志文章

    doi:10.1023/a:1013996325720

    authors: Hershkovitz E,Rachmel A,Ben-Zaken H,Phillip M

    更新日期:2001-12-01 00:00:00

  • Glutaric aciduria type I: outcome in the Republic of Ireland.

    abstract::Twenty-one patients have been diagnosed with glutaric aciduria type I over a 16-year period in the Republic of Ireland, 11 following clinical presentation and 10 following a high-risk screen. Nineteen have been managed with diet. Eight patients have died, of whom 7 were diagnosed clinically. Six had dystonic and one s...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1023/B:BOLI.0000045777.82784.74

    authors: Naughten ER,Mayne PD,Monavari AA,Goodman SI,Sulaiman G,Croke DT

    更新日期:2004-01-01 00:00:00

  • Concordance rates of Wilson's disease phenotype among siblings.

    abstract::Wilson's disease (WD) is an autosomal recessive disorder characterized by the functional disruption of adenosine triphosphatase 7B (ATP7B), which results in positive copper balance. Although the primary manifestations of the disease are hepatic or neurological in scope, the factors that cause a very diverse picture of...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-013-9625-z

    authors: Chabik G,Litwin T,Członkowska A

    更新日期:2014-01-01 00:00:00

  • Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency.

    abstract::Dopa decarboxylase (DDC or AADC) is a pyridoxal 5'-phosphate (PLP)-dependent enzyme that catalyzes the decarboxylation of L-aromatic amino acids into the corresponding aromatic amines. AADC deficiency is an inborn error of neurotransmitters biosynthesis with an autosomal recessive inheritance. About 30 pathogenic muta...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-011-9340-6

    authors: Montioli R,Cellini B,Borri Voltattorni C

    更新日期:2011-12-01 00:00:00

  • PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders.

    abstract::Enzyme defects in the mitochondrial fatty acid oxidation (FAO) are a large family of inherited metabolic disease well characterized clinically and genetically, but for which pharmacological strategies remain limited. It is now well established that regulation of genes involved in mitochondrial FAO is under control of ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审

    doi:10.1007/s10545-008-0844-7

    authors: Djouadi F,Bastin J

    更新日期:2008-04-01 00:00:00

  • Pyrimidine and purine metabolites in ornithine carbamoyl transferase deficiency.

    abstract::Detailed biochemical studies have been carried out in a female heterozygote for ornithine carbamoyl-transferase (OCT) deficiency. Increased levels of the pyrimidines, orotic acid, uridine and uracil, were observed in plasma as well as urine by utilizing an adaptation of high performance liquid chromatography (HPLC). U...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/BF02263578

    authors: Webster DR,Simmonds HA,Barry DM,Becroft DM

    更新日期:1981-01-01 00:00:00

  • Hypercholesterolaemia type II: changes in plasma insulin and glucagon levels after portacaval shunt.

    abstract::Insulinaemia and glucagonaemia were measured in two cases of hypercholesterolaemia type II, before and after portacaval shunt. The results show an increase of both hormones although these variations are not concomitant with the decrease in cholesterolaemia. The data still do not explain the mechanism of the decrease. ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/BF01801719

    authors: Farriaux JP,Luyckx AS,Ribet M

    更新日期:1980-01-01 00:00:00

  • A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.

    abstract::Congenital disorders of glycosylation (CDG) are a group of hereditary metabolic diseases characterized by abnormal glycosylation of proteins and lipids. Often, multisystem disorders with central nervous system involvement and a large variety of clinical symptoms occur. The main characteristics are developmental delay,...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-015-9828-6

    authors: Dörre K,Olczak M,Wada Y,Sosicka P,Grüneberg M,Reunert J,Kurlemann G,Fiedler B,Biskup S,Hörtnagel K,Rust S,Marquardt T

    更新日期:2015-09-01 00:00:00

  • Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA.

    abstract::Mucopolysaccharidosis type IVA (MPS IVA) or Morquio syndrome is a multisystem disorder caused by galactosamine-6-sulfatase deficiency. Skeletal manifestations, including short stature, skeletal dysplasia, cervical instability, and joint destruction, are known to be associated with this condition. Due to the severity o...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审

    doi:10.1007/s10545-012-9459-0

    authors: Hendriksz CJ,Al-Jawad M,Berger KI,Hawley SM,Lawrence R,Mc Ardle C,Summers CG,Wright E,Braunlin E

    更新日期:2013-03-01 00:00:00